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Analysis of the karyotype of an azoospermic 27-year-old man, without any dysmorphism, showed the presence of a ring chromosome 21.
Mosaic tetrasomy 12p is a dysmorphic syndrome which has been described under the name of Pallister mosaic syndrome and Teschler-Nicola/Killian syndrome and has sometimes been incorrectly interpreted as tetrasomy 21. Here we report the first case to be diagnosed prenatally and confirmed by enzyme...
Hair and skin pigmentation changes are described in males with Menkes disease from birth to 12 years of age and in 28 obligate carrier or at-risk females. Pili torti were observed in all affected males and in 43% of the females studied. The presence of pili torti may be considered a reliable...
This study examines the association of Hirschsprung disease with Down syndrome and calculates the recurrence risk for families of Hirschsprung patients. Information was collected from 134 histologically diagnosed patients with Hirschsprung disease, from Children's Hospital in Pittsburgh, PA...
A case of an X-autosome rearrangement is presented in which part of the Xpter is deleted but the STS and MIC2X loci are retained. The normal X is late replicating in 97/100 lymphocytes and 50/50 fibroblasts examined. It is assumed that the initial X-inactivation in the embryo is random, but that...
A 24-year-old female with severe mental retardation, congenital malformations and dysmorphic features is described. 8p trisomy due to a de novo inv dup(8) (p21.1→p22) was found in her karyotype. Other published cases with 8p trisomy are reviewed.
A distinct syndrome with hand abnormalities, joint contractures, cleft palate and a Dandy-Walker malformation was reported by Aase & Smith (1968). This paper reports a second example of this syndrome in a mother and daughter.
A patient with multiple congenital anomalies suggestive of the “Cat eye” syndrome was found to have an extra marker bisatellited chromosome 22 derived from a maternal Y/22 translocation, identified by multiple banding patterns in cultures treated with DA. The proband's karyotype is 47, XX, +...
Electrophysiological studies showed that a patient with Åland eye disease had no misrouting of the optic pathways which is always found in all forms of albinism as a consequence of the retinogeniculate anomaly. Also the spontaneous and optokinetic nystagmus did not resemble that of the large...
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