Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation.
Two girls with mosaicism for an extra chromosome 9 are reported. Clinical findings included growth and mental retardation, facial dysmorphism, delayed ossification, single flexion crease, gastro-oesophageal reflux in one girl, and ventricular and atrial septal defects in the other patient. These findings are compared to the other previously reported cases of trisomy 9 mosaicism.
Stoll
C
C
Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France.
Chognot
D
D
Halb
A
A
Luckel
J C
JC
D000015:Abnormalities, Multiple / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000151:congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D009030:Mosaicism; D014314:Trisomy