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M. Ferguson-Smith (1965)
Karyotype-phenotype Correlations in Gonadal Dysgenesis and Their Bearing on the Pathogenesis of MalformationsJournal of Medical Genetics, 2
C. Rainier-Pope, R. Cunningham, A. Nadas, J. Crigler (1964)
CARDIOVASCULAR MALFORMATIONS IN TURNER'S SYNDROMEPediatrics
M. Shokeir (1971)
Hypoplastic left heart syndrome: An autosomal recessive disorderClinical Genetics, 2
KHM Shokeir (1971)
Hypoplastic left heart syndrome, 2
EB Hook, JL Hamerton (1977)
Population Cytogenetics
PE Conen, IH Glass (1963)
45/XO Turner's syndrome in the newborn, 23
MS Mattevi, H Wolff, FM Salzano, MC Mallmann (1971)
Cytogenetic, clinical and genealogical analyses in a series of gonadal dysgenesis patients and their families, 13
J deGrouchy, C Turleau (1977)
Clinical Atlas of Human Chromosomes
Shokeir Mh (1974)
Hypoplastic left heart. Evidence for possible autosomal recessive inheritance.Birth defects original article series, 10
P. Conen, I. Glass (1963)
45/XO Turner's syndrome in the newborn: report of two cases.The Journal of clinical endocrinology and metabolism, 23
LB Holmes, V Rose, AH Child, W Kratzer (1974)
Urinary System and Others, Part XVI, X
Recurrence risks for primary congenital heart lesions are well defined. An infant with hypoplastic left heart syndrome is observed to have a short neck with a full skin fold on the right side, unilateral single palmar crease, and whorls on all ten fingers. She was found to have the Ullrich‐Turner syndrome with mosaicism 45,X/46,XX/47,XXX. We believe the cardiac malformation was secondary to her aneuploidy. This could have important implications for prediction of recurrence risks to the parents. Chromosomal tests may be indicated for infants were severe congenital cardiac lesions, based on subtle clinical findings.
American Journal of Medical Genetics Part A – Wiley
Published: Jan 1, 1978
Keywords: ; ; ;
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