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Chromosomal Variability in the D1 Trisomy Syndrome: Three Cases and Review of the Literature

Chromosomal Variability in the D1 Trisomy Syndrome: Three Cases and Review of the Literature Abstract Since recognition of the autosomal trisomy D1 syndrome by Patau et al,1 120 cases with cytological confirmation have been reported. In two surveys, the observers have attempted to estimate the frequency of this syndrome by identification of all cases occurring within an area during a period of time. Neither of these reports emphasized either the frequency or the variability of arrangements of the D chromosomes. In their study of York County, Ontario, from 1962 through 1965, Conen and Erkman2 ascertained nine cases of the D1 syndrome; four of the nine had D/D translocation, while the other five had 47 chromosomes. The area in England surveyed by Taylor3 was less precisely defined. She ascertained 27 cases during a period of five years, but four patients did not have the extra D chromosomal material usually considered necessary to confirm the diagnosis. Among the remaining 23 cases, three were due References 1. Patau K, et al: Multiple congenital anomaly caused by an extra autosome . Lancet 1:790-793, 1960.Crossref 2. Conen PE, Erkman B: Frequency and occurrence of chromosomal syndromes: I. D-trisomy . Amer J Hum Genet 18:374-386, 1966. 3. Taylor AI: Autosomal trisomy syndromes: A detailed study of 27 cases of Edward's syndrome and 27 cases of Patau's syndrome . J Med Genet 5:227-252,1968.Crossref 4. Therman E, et al: Iso/Telo-D1 mosaicism in a child with an incomplete D, trisomy syndrome . Port Acta Biol 7:211-224, 1963. 5. Walzer S, et al: Hematologic changes in the D, trisomy syndrome . Pediatrics 38:419-429, 1966. 6. Teller W, Pfeiffer RA: Die Trisomie D1 (13-15) als Ursache multipler Abartungen . Z Kinderheilk 89:36-48, 1964.Crossref 7. Cornu G, et al: Trisomy 17/18 and trisomy 13/15 in the African child . J Trop Med Hyg 71:105-109, 1968. 8. Kos AO, Schuknecht HF, Singer JD: Temporal bone studies in 13-15 and 18 trisomy syndromes . Arch Otolaryng 83:439-445, 1966.Crossref 9. Wilson MG: Rubinstein-Taybi and D, trisomy syndromes . J Pediat 73:404-408, 1968.Crossref 10. Vislie H, et al: Chromosome abnormalities in a mother and two mentally retarded children . Lancet 2:76-78,1962.Crossref 11. Zellweger H, Mikamo K, Abbo G: Two cases of multiple malformations with an autosomal chromosomal aberration: Partial trisomy D? Helv Paediat Acta 17:290-300,1962. 12. Jacobsen P, Dupont A, Mikkelsen M: Translocation in the 13-15 group as a cause of partial trisomy and spontaneous abortion in the same family . Lancet 2:584-585,1963.Crossref 13. Stalder GR, et al: A family with balanced D1→Cs—translocation carriers and unbalanced offspring . Humangenetik 1:197-200, 1964. 14. Beçak W, Beçak ML, Schmidt BJ: Chromosome trisomy of group 13-15 in two cases of generalised congenital analgesia . Lancet 1:664-665,1963.Crossref 15. Green JR Jr, Krovetz LH, Taylor WJ: Two generations of 13-15 chromosomal mosaicism: Possible evidence for a genetic defect in the control of chromosomal replication . Cytogenetics 7:286-297,1968.Crossref 16. Hecht F, et al: Translocations in the D1 trisomy syndrome . Ann Genet 9:155-159, 1966. 17. Gustavson KH, et al: Post-mortem diagnosis of a new double-trisomy associated with cardiovascular and other anomalies . Acta Paediat 51:686-697, 1962.Crossref 18. Schade H, Schoeller L, Schultze KW: D-Trisomie (Pätau-Syndrome) mit kongenitaler myeloischer leukämie . Med Welt 50:2690-2692, 1962. 19. Schärer VK, Hauschteck E, Mühlethaler JP: Trisomie-Syndrom D . Helv Med Acta 29:423-424,1962. 20. Miller JQ, et al: A specific congenital brain defect (Arhinencephaly) in 13-15 trisomy . New Eng J Med 268:120-124, 1963.Crossref 21. Sergovich F, et al: The D trisomy syndrome: A case report with a description of ocular pathology . Canad Med Assoc J 89:151-157, 1963. 22. Lafourcade J, et al: Aberrations chromosomiques et maladies humaines: Contribution à l'étude anatomique de la trisomie 13 . Bull Soc Med Hop Paris 115:383-399, 1964. 23. Taylor AI, Polani PE: Autosomal trisomy syndromes, excluding Down's . Guy Hosp Rep 113:231-249, 1964. 24. Conen PE, Erkman B, Metaxotou C: The "D" syndrome: Report of four trisomic and one D/D translocation case . Amer J Dis Child 111:236-247, 1966.Crossref 25. Snodgrass GJAI, et al: The "D" (13-15) trisomy syndrome: An analysis of 7 examples . Arch Dis Child 41:250-261, 1966.Crossref 26. France NE, et al: Trisomy D1 (13-15) associated with XO/XY mosaicism . J Med Genet 4:134-138, 1967.Crossref 27. Wilson MG, et al: Hemoglobin variations in D-trisomy syndrome . New Eng J Med 277:953-958, 1967.Crossref 28. Gaudier B, et al: Une nouvelle observation de trisomie 13 . Pediatric 23:215-226, 1968. 29. Kelemen G, Hooft C, Kluyskens P: The inner ear in autosomal trisomy . Pract Otorhinolaryng 30:251-258, 1968. 30. Masterson JG, et al: Trisomy D1 (Patau's syndrome) . J Irish Med Assoc 61:195-199, 1968. 31. Rosenfield RL, et al: Trisomy of chromosomes 13-15 and 17-18: Its association with infantile arteriosclerosis . Amer J Med Sci 244:763-779, 1962.Crossref 32. Townes PL, et al: Trisomy 13-15 in a male infant . J Pediat 60:528-532, 1962.Crossref 33. Smith DW, et al: The D, trisomy syndrome . J Pediat 62:326-341, 1963.Crossref 34. Blanck C, et al: Trisomy 13-15: Report of a case with clinical, cytogenetic and pathologic findings . Acta Path Microbiol Scand 60:36-46, 1964. 35. Neimann N, et al: La trisomie 13-15 . Arch Franc Pediat 21:661-686, 1964. 36. Powars D, Rohde R, Graves D: Foetal haemoglobin and neutrophil anomaly in the D1-trisomy syndrome . Lancet 1:1363-1364, 1964.Crossref 37. Ginsberg J, Perrin EVD: Ocular manifestations of 13-15 trisomy . Arch Ophthal 74:487-495,1965.Crossref 38. Lee CSN, et al: The D1 trisomy syndrome: Three subjects with unequally advancing development . Bull Hopkins Hosp 118:374-394, 1966. 39. Castel Y, et al: La trisomie 13 . Ouest Med 21:261-272, 1968. 40. Miller JQ, et al: Neurologic manifestations of 13-15 trisomy: A chromosome abnormality in arinencephaly . Trans Amer Neurol Assoc 87:51-56,1962. 41. Yunis JJ, Hook EB: Deoxyribonucleic acid replication and mapping of the D, chromosome: A study of two patients with partial trisomy D1 . Amer J Dis Child 111:83-89, 1966.Crossref 42. Bühler VE, et al: Trisomie 13-15 mit Cebocephalie . Ann Pediat 199:198-205, 1962. 43. Conen PE, Phillips KG, Mauntner LS: Multiple developmental anomalies and trisomy of a 13-15 group chromosome ('D' Syndrome) . Canad Med Assoc J 87:709-712, 1962. 44. Marin-Padilla M, Hoefnagel D, Benirschke K: Anatomic and histopathologic study of two cases of D, (13-15) trisomy . Cytogenetics 3:258-284,1964.Crossref 45. Marsch W, Gropp A, Rotthauwe HW: Chromosomenanomalien bei Missbildungssyndromen (sog. D- und E- trisomie-syndrom) . Virchow Arch Path Anat 338:111-129, 1964.Crossref 46. Centa A, Rasore-Quartino A: Su di un caso di arinencefalia con trisomia D (13-15) . Pathologica 59:137-144, 1967. 47. Diebold J, et al: Trisomie 13-15. Etude anatomo-pathologique d'une forme rare avec ethmocéphalie . Arch Anat Path 15:277-287, 1967. 48. Toews HA, Jones HW Jr: Cyclopia in association with D trisomy and gonadal agenesis . Amer J Obstet Gynec 102:53-56, 1968. 49. Ellis JR, Marwood JC: Autosomal trisomy syndromes . Lancet 2:263, 1961.Crossref 50. Lubs HA Jr, Koenig EU, Brandt IK: Trisomy 13-15: A clinical syndrome . Lancet 2:1001-1002,1961.Crossref 51. Northcutt RC: Multiple congenital anomalies in a Negro infant with 13-15 trisomy . Southern Med J 55:385-389, 1962.Crossref 52. Miller M, et al: A chromosomal anomaly with multiple ocular defects including retinaldysplasia . Amer J Ophthal 55:901-910, 1963. 53. Warburg M, Mikkelsen M: A case of 13-15 trisomy or Bartholin-Patau's syndrome . Acta Ophthal 41:321-334, 1963.Crossref 54. Yunis JJ, Hook EB, Mayer M: Deoxyribonucleic-acid replication pattern of trisomy D1 . Lancet 2:935-937, 1964.Crossref 55. Roch LM II, Petrucci JV, Barber AN: Studies on the development of the eye in the 13-15 trisomy syndrome . Amer J Ophthal 60:1067-1074, 1965. 56. Neuhäuser G, Usener M: Hirnmissbildung und autosomale Trisomie . Z Kinderheilk 95:244-262, 1966.Crossref 57. McKusick VA: VI. Cytogenetics in man . J Chronic Dis 14:28-41,1961.Crossref 58. Atkins L, Rosenthal MK: Multiple congenital abnormalities associated with chromosomal trisomy . New Eng J Med 265:314-318, 1961.Crossref 59. Therman E, et al: The D trisomy syndrome and XO gonadal dysgenesis in two sisters . Amer J Hum Genet 13:193-204, 1961. 60. Becker KL, Burke EC, Albert A: Double autosomal trisomy (D trisomy plus mongolism) . Mayo Clin Proc 38:242-248, 1963. 61. Huehns ER, et al: Developmental hemoglobin anomalies in a chromosomal triplication: D1 trisomy syndrome . Proc Nat Acad Sci USA 51:89-97, 1964.Crossref 62. Montero E, Guirao M, Garcia-Gomez E: Trisomia D por translocation 13/14 . An Dessarrollo 12:459-483, 1964. 63. Erkman B, Basrur VR, Conen PE: D/D translocation "D" syndrome: Report of three cases . J Pediat 67:270-282,1965.Crossref 64. Atkins L, Keenan ME: Probable 3/13-15 chromosome translocation with D, trisomy syndrome . J Pediat 67:874-877, 1965.Crossref 65. Delhanty JDA, Shapiro A: An unusual acrocentric found in a case of idiocy with microphthalmia . J Ment Defic Res 6:38-43, 1962. 66. Jongbloet P, et al: Sporadic trisomy D1 with translocation D/D . Helv Paediat Acta 19:121-126, 1964. 67. Gustavson K-H, Johansson SGO, Wranne L: Immunoglobulins in 13-15 trisomy syndrome due to a translocation . Acta Paediat Scand 57:436-440, 1968.Crossref 68. Hauschteck E, et al: Siblings with different types of chromosomal aberrations due to D/E- translocation of the mother . Cytogenetics 5:281-294, 1966.Crossref 69. Cellesi C, Ceci G: Un caso di presumibile traslocazione D/D . Riv Ostet Ginec 20:783-786, 1965. 70. Tolksdorf M, et al: Pätau-Syndrom mit Trisomie D1 und D/D- Translokation . Med Welt 41:2304-2307,1965. 71. Willard D, et al: Trisomie D et pseudo-trisomie D . Rev Pediat 4:247-252, 1967. 72. Rasore-Quartino A: Su di un caso di trisomia D (13-15) da traslocazione D/D . Pathologica 59:145-151, 1967. 73. Cohen MM, Takagi N, Harrod EK: Trisomy D1 with two D/D translocation chromosomes: Report of a case . Amer J Dis Child 115:185-190, 1968.Crossref 74. Bain AD, et al: Normal-Trisomy 13-15 mosaicism in two infants . Arch Dis Child 40:442-445, 1965.Crossref 75. Craig AP, Luzzatti L: Translocation in trisomy D syndrome . J Pediat 70:264-269,1967.Crossref 76. Warkany J, et al: Mental retardation, absence of patellae, other malformations with chromosomal mosaicism . J Pediat 61:803-812, 1962.Crossref 77. Méhes K, Bata G: Congenital thrombocytopenia in 13-15 trisomy . Lancet 1:1279,1965.Crossref 78. Engel E, Haddow JE, Lewis JF, et al: Three unusual trisomic patterns in children . Amer J Dis Child 113:322-328, 1967.Crossref 79. Stone D, et al: 13-15 trisomy mosaicism in a normal-looking 14-year-old retarded girl . J Med Genet 3:142-144,1966.Crossref 80. Wilson MG, Melnyk J: Translocation/normal mosaicism in D1 trisomy . Pediatrics 40:842-846,1967. 81. Magenis RE, Hecht F, Milham S Jr: Trisomy 13 (D1) syndrome: Studies on parental age, sex ratio, and survival . J Pediat 73:222-228, 1968.Crossref 82. Wright SW, et al: The frequency of trisomy and translocation in Down's syndrome . J Pediat 70:420-424, 1967.Crossref 83. Richards BW, et al: Cytogenetic survey of 225 patients diagnosed clinically as mongols . J Ment Defic Res 9:245-259, 1965. 84. Court Brown WM: Human Population Cytogenetics . Amsterdam, North-Holland Publishing Co, 1967, p 26, 89-92. 85. Hecht F, et al: Nonrandomness of translocations in man: Preferential entry of chromosomes into 13-15/21 translocations . Science 161:371-372, 1968.Crossref 86. Edgren J, de la Chapelle A, Kääriäinen R: Cytogenetic study of seventy-three patients with Down's syndrome . J Ment Defic Res 10:47-62,1966. 87. Tonomura A, et al: Down's syndrome: A cytogenetic and statistical survey of 127 Japanese patients . Jap J Hum Genet 11:1-16, 1966. 88. Huehns ER, Lutzner M, Hecht F: Nuclear abnormalities of the neutrophils in D1 (13-15) trisomy syndrome . Lancet 1:589-590, 1964.Crossref 89. Huehns ER, et al: Human embryonic hemoglobins . Sympos Quant Biol 29:327-331, 1964.Crossref 90. Weinstein ED, Rucknagle DL, Shaw MW: Quantitative studies on A2, sickle cell, and fetal hemoglobins in negroes with mongolism, with observations on translocation mongolism in negroes . Amer J Hum Genet 17:443-456, 1965. 91. Carver MJ: Basic studies in mongolism: II. Hemoglobin . J Nerv Ment Dis 127:374-377, 1958.Crossref 92. Farrar JF, Blomfield J: Alkali-resistant haemoglobin content of blood in congenital heart disease . Brit J Haemat 9:278-287, 1963.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Chromosomal Variability in the D1 Trisomy Syndrome: Three Cases and Review of the Literature

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References (106)

Publisher
American Medical Association
Copyright
Copyright © 1970 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1970.02100090148023
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Abstract

Abstract Since recognition of the autosomal trisomy D1 syndrome by Patau et al,1 120 cases with cytological confirmation have been reported. In two surveys, the observers have attempted to estimate the frequency of this syndrome by identification of all cases occurring within an area during a period of time. Neither of these reports emphasized either the frequency or the variability of arrangements of the D chromosomes. In their study of York County, Ontario, from 1962 through 1965, Conen and Erkman2 ascertained nine cases of the D1 syndrome; four of the nine had D/D translocation, while the other five had 47 chromosomes. The area in England surveyed by Taylor3 was less precisely defined. She ascertained 27 cases during a period of five years, but four patients did not have the extra D chromosomal material usually considered necessary to confirm the diagnosis. Among the remaining 23 cases, three were due References 1. Patau K, et al: Multiple congenital anomaly caused by an extra autosome . Lancet 1:790-793, 1960.Crossref 2. Conen PE, Erkman B: Frequency and occurrence of chromosomal syndromes: I. D-trisomy . Amer J Hum Genet 18:374-386, 1966. 3. Taylor AI: Autosomal trisomy syndromes: A detailed study of 27 cases of Edward's syndrome and 27 cases of Patau's syndrome . J Med Genet 5:227-252,1968.Crossref 4. Therman E, et al: Iso/Telo-D1 mosaicism in a child with an incomplete D, trisomy syndrome . Port Acta Biol 7:211-224, 1963. 5. Walzer S, et al: Hematologic changes in the D, trisomy syndrome . Pediatrics 38:419-429, 1966. 6. Teller W, Pfeiffer RA: Die Trisomie D1 (13-15) als Ursache multipler Abartungen . Z Kinderheilk 89:36-48, 1964.Crossref 7. Cornu G, et al: Trisomy 17/18 and trisomy 13/15 in the African child . J Trop Med Hyg 71:105-109, 1968. 8. Kos AO, Schuknecht HF, Singer JD: Temporal bone studies in 13-15 and 18 trisomy syndromes . Arch Otolaryng 83:439-445, 1966.Crossref 9. Wilson MG: Rubinstein-Taybi and D, trisomy syndromes . J Pediat 73:404-408, 1968.Crossref 10. Vislie H, et al: Chromosome abnormalities in a mother and two mentally retarded children . Lancet 2:76-78,1962.Crossref 11. Zellweger H, Mikamo K, Abbo G: Two cases of multiple malformations with an autosomal chromosomal aberration: Partial trisomy D? Helv Paediat Acta 17:290-300,1962. 12. Jacobsen P, Dupont A, Mikkelsen M: Translocation in the 13-15 group as a cause of partial trisomy and spontaneous abortion in the same family . Lancet 2:584-585,1963.Crossref 13. Stalder GR, et al: A family with balanced D1→Cs—translocation carriers and unbalanced offspring . Humangenetik 1:197-200, 1964. 14. Beçak W, Beçak ML, Schmidt BJ: Chromosome trisomy of group 13-15 in two cases of generalised congenital analgesia . Lancet 1:664-665,1963.Crossref 15. Green JR Jr, Krovetz LH, Taylor WJ: Two generations of 13-15 chromosomal mosaicism: Possible evidence for a genetic defect in the control of chromosomal replication . Cytogenetics 7:286-297,1968.Crossref 16. Hecht F, et al: Translocations in the D1 trisomy syndrome . Ann Genet 9:155-159, 1966. 17. Gustavson KH, et al: Post-mortem diagnosis of a new double-trisomy associated with cardiovascular and other anomalies . Acta Paediat 51:686-697, 1962.Crossref 18. Schade H, Schoeller L, Schultze KW: D-Trisomie (Pätau-Syndrome) mit kongenitaler myeloischer leukämie . Med Welt 50:2690-2692, 1962. 19. Schärer VK, Hauschteck E, Mühlethaler JP: Trisomie-Syndrom D . Helv Med Acta 29:423-424,1962. 20. Miller JQ, et al: A specific congenital brain defect (Arhinencephaly) in 13-15 trisomy . New Eng J Med 268:120-124, 1963.Crossref 21. Sergovich F, et al: The D trisomy syndrome: A case report with a description of ocular pathology . Canad Med Assoc J 89:151-157, 1963. 22. Lafourcade J, et al: Aberrations chromosomiques et maladies humaines: Contribution à l'étude anatomique de la trisomie 13 . Bull Soc Med Hop Paris 115:383-399, 1964. 23. Taylor AI, Polani PE: Autosomal trisomy syndromes, excluding Down's . Guy Hosp Rep 113:231-249, 1964. 24. Conen PE, Erkman B, Metaxotou C: The "D" syndrome: Report of four trisomic and one D/D translocation case . Amer J Dis Child 111:236-247, 1966.Crossref 25. Snodgrass GJAI, et al: The "D" (13-15) trisomy syndrome: An analysis of 7 examples . Arch Dis Child 41:250-261, 1966.Crossref 26. France NE, et al: Trisomy D1 (13-15) associated with XO/XY mosaicism . J Med Genet 4:134-138, 1967.Crossref 27. Wilson MG, et al: Hemoglobin variations in D-trisomy syndrome . New Eng J Med 277:953-958, 1967.Crossref 28. Gaudier B, et al: Une nouvelle observation de trisomie 13 . Pediatric 23:215-226, 1968. 29. Kelemen G, Hooft C, Kluyskens P: The inner ear in autosomal trisomy . Pract Otorhinolaryng 30:251-258, 1968. 30. Masterson JG, et al: Trisomy D1 (Patau's syndrome) . J Irish Med Assoc 61:195-199, 1968. 31. Rosenfield RL, et al: Trisomy of chromosomes 13-15 and 17-18: Its association with infantile arteriosclerosis . Amer J Med Sci 244:763-779, 1962.Crossref 32. Townes PL, et al: Trisomy 13-15 in a male infant . J Pediat 60:528-532, 1962.Crossref 33. Smith DW, et al: The D, trisomy syndrome . J Pediat 62:326-341, 1963.Crossref 34. Blanck C, et al: Trisomy 13-15: Report of a case with clinical, cytogenetic and pathologic findings . Acta Path Microbiol Scand 60:36-46, 1964. 35. Neimann N, et al: La trisomie 13-15 . Arch Franc Pediat 21:661-686, 1964. 36. Powars D, Rohde R, Graves D: Foetal haemoglobin and neutrophil anomaly in the D1-trisomy syndrome . Lancet 1:1363-1364, 1964.Crossref 37. Ginsberg J, Perrin EVD: Ocular manifestations of 13-15 trisomy . Arch Ophthal 74:487-495,1965.Crossref 38. Lee CSN, et al: The D1 trisomy syndrome: Three subjects with unequally advancing development . Bull Hopkins Hosp 118:374-394, 1966. 39. Castel Y, et al: La trisomie 13 . Ouest Med 21:261-272, 1968. 40. Miller JQ, et al: Neurologic manifestations of 13-15 trisomy: A chromosome abnormality in arinencephaly . Trans Amer Neurol Assoc 87:51-56,1962. 41. Yunis JJ, Hook EB: Deoxyribonucleic acid replication and mapping of the D, chromosome: A study of two patients with partial trisomy D1 . Amer J Dis Child 111:83-89, 1966.Crossref 42. Bühler VE, et al: Trisomie 13-15 mit Cebocephalie . Ann Pediat 199:198-205, 1962. 43. Conen PE, Phillips KG, Mauntner LS: Multiple developmental anomalies and trisomy of a 13-15 group chromosome ('D' Syndrome) . Canad Med Assoc J 87:709-712, 1962. 44. Marin-Padilla M, Hoefnagel D, Benirschke K: Anatomic and histopathologic study of two cases of D, (13-15) trisomy . Cytogenetics 3:258-284,1964.Crossref 45. Marsch W, Gropp A, Rotthauwe HW: Chromosomenanomalien bei Missbildungssyndromen (sog. D- und E- trisomie-syndrom) . Virchow Arch Path Anat 338:111-129, 1964.Crossref 46. Centa A, Rasore-Quartino A: Su di un caso di arinencefalia con trisomia D (13-15) . Pathologica 59:137-144, 1967. 47. Diebold J, et al: Trisomie 13-15. Etude anatomo-pathologique d'une forme rare avec ethmocéphalie . Arch Anat Path 15:277-287, 1967. 48. Toews HA, Jones HW Jr: Cyclopia in association with D trisomy and gonadal agenesis . Amer J Obstet Gynec 102:53-56, 1968. 49. Ellis JR, Marwood JC: Autosomal trisomy syndromes . Lancet 2:263, 1961.Crossref 50. Lubs HA Jr, Koenig EU, Brandt IK: Trisomy 13-15: A clinical syndrome . Lancet 2:1001-1002,1961.Crossref 51. Northcutt RC: Multiple congenital anomalies in a Negro infant with 13-15 trisomy . Southern Med J 55:385-389, 1962.Crossref 52. Miller M, et al: A chromosomal anomaly with multiple ocular defects including retinaldysplasia . Amer J Ophthal 55:901-910, 1963. 53. Warburg M, Mikkelsen M: A case of 13-15 trisomy or Bartholin-Patau's syndrome . Acta Ophthal 41:321-334, 1963.Crossref 54. Yunis JJ, Hook EB, Mayer M: Deoxyribonucleic-acid replication pattern of trisomy D1 . Lancet 2:935-937, 1964.Crossref 55. Roch LM II, Petrucci JV, Barber AN: Studies on the development of the eye in the 13-15 trisomy syndrome . Amer J Ophthal 60:1067-1074, 1965. 56. Neuhäuser G, Usener M: Hirnmissbildung und autosomale Trisomie . Z Kinderheilk 95:244-262, 1966.Crossref 57. McKusick VA: VI. Cytogenetics in man . J Chronic Dis 14:28-41,1961.Crossref 58. Atkins L, Rosenthal MK: Multiple congenital abnormalities associated with chromosomal trisomy . New Eng J Med 265:314-318, 1961.Crossref 59. Therman E, et al: The D trisomy syndrome and XO gonadal dysgenesis in two sisters . Amer J Hum Genet 13:193-204, 1961. 60. Becker KL, Burke EC, Albert A: Double autosomal trisomy (D trisomy plus mongolism) . Mayo Clin Proc 38:242-248, 1963. 61. Huehns ER, et al: Developmental hemoglobin anomalies in a chromosomal triplication: D1 trisomy syndrome . Proc Nat Acad Sci USA 51:89-97, 1964.Crossref 62. Montero E, Guirao M, Garcia-Gomez E: Trisomia D por translocation 13/14 . An Dessarrollo 12:459-483, 1964. 63. Erkman B, Basrur VR, Conen PE: D/D translocation "D" syndrome: Report of three cases . J Pediat 67:270-282,1965.Crossref 64. Atkins L, Keenan ME: Probable 3/13-15 chromosome translocation with D, trisomy syndrome . J Pediat 67:874-877, 1965.Crossref 65. Delhanty JDA, Shapiro A: An unusual acrocentric found in a case of idiocy with microphthalmia . J Ment Defic Res 6:38-43, 1962. 66. Jongbloet P, et al: Sporadic trisomy D1 with translocation D/D . Helv Paediat Acta 19:121-126, 1964. 67. Gustavson K-H, Johansson SGO, Wranne L: Immunoglobulins in 13-15 trisomy syndrome due to a translocation . Acta Paediat Scand 57:436-440, 1968.Crossref 68. Hauschteck E, et al: Siblings with different types of chromosomal aberrations due to D/E- translocation of the mother . Cytogenetics 5:281-294, 1966.Crossref 69. Cellesi C, Ceci G: Un caso di presumibile traslocazione D/D . Riv Ostet Ginec 20:783-786, 1965. 70. Tolksdorf M, et al: Pätau-Syndrom mit Trisomie D1 und D/D- Translokation . Med Welt 41:2304-2307,1965. 71. Willard D, et al: Trisomie D et pseudo-trisomie D . Rev Pediat 4:247-252, 1967. 72. Rasore-Quartino A: Su di un caso di trisomia D (13-15) da traslocazione D/D . Pathologica 59:145-151, 1967. 73. Cohen MM, Takagi N, Harrod EK: Trisomy D1 with two D/D translocation chromosomes: Report of a case . Amer J Dis Child 115:185-190, 1968.Crossref 74. Bain AD, et al: Normal-Trisomy 13-15 mosaicism in two infants . Arch Dis Child 40:442-445, 1965.Crossref 75. Craig AP, Luzzatti L: Translocation in trisomy D syndrome . J Pediat 70:264-269,1967.Crossref 76. Warkany J, et al: Mental retardation, absence of patellae, other malformations with chromosomal mosaicism . J Pediat 61:803-812, 1962.Crossref 77. Méhes K, Bata G: Congenital thrombocytopenia in 13-15 trisomy . Lancet 1:1279,1965.Crossref 78. Engel E, Haddow JE, Lewis JF, et al: Three unusual trisomic patterns in children . Amer J Dis Child 113:322-328, 1967.Crossref 79. Stone D, et al: 13-15 trisomy mosaicism in a normal-looking 14-year-old retarded girl . J Med Genet 3:142-144,1966.Crossref 80. Wilson MG, Melnyk J: Translocation/normal mosaicism in D1 trisomy . Pediatrics 40:842-846,1967. 81. Magenis RE, Hecht F, Milham S Jr: Trisomy 13 (D1) syndrome: Studies on parental age, sex ratio, and survival . J Pediat 73:222-228, 1968.Crossref 82. Wright SW, et al: The frequency of trisomy and translocation in Down's syndrome . J Pediat 70:420-424, 1967.Crossref 83. Richards BW, et al: Cytogenetic survey of 225 patients diagnosed clinically as mongols . J Ment Defic Res 9:245-259, 1965. 84. Court Brown WM: Human Population Cytogenetics . Amsterdam, North-Holland Publishing Co, 1967, p 26, 89-92. 85. Hecht F, et al: Nonrandomness of translocations in man: Preferential entry of chromosomes into 13-15/21 translocations . Science 161:371-372, 1968.Crossref 86. Edgren J, de la Chapelle A, Kääriäinen R: Cytogenetic study of seventy-three patients with Down's syndrome . J Ment Defic Res 10:47-62,1966. 87. Tonomura A, et al: Down's syndrome: A cytogenetic and statistical survey of 127 Japanese patients . Jap J Hum Genet 11:1-16, 1966. 88. Huehns ER, Lutzner M, Hecht F: Nuclear abnormalities of the neutrophils in D1 (13-15) trisomy syndrome . Lancet 1:589-590, 1964.Crossref 89. Huehns ER, et al: Human embryonic hemoglobins . Sympos Quant Biol 29:327-331, 1964.Crossref 90. Weinstein ED, Rucknagle DL, Shaw MW: Quantitative studies on A2, sickle cell, and fetal hemoglobins in negroes with mongolism, with observations on translocation mongolism in negroes . Amer J Hum Genet 17:443-456, 1965. 91. Carver MJ: Basic studies in mongolism: II. Hemoglobin . 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Journal

American Journal of Diseases of Children – American Medical Association

Published: Oct 1, 1970

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