Familial fragile secondary constriction on chromosome 2 (2q11) with unusual features and psychomotor retardation.
A child with fragile secondary constriction 2q11 associated with unusual clinical features and psychomotor retardation is described. The pathogenetic significance of this fragile site still remains unclear, and heterogeneity of clinical manifestations is not well understood.
Murthy
D S
DS
Kuwait Medical Genetics Centre, Maternity Hospital, Safat.
Teebi
A S
AS
Sundareshan
T S
TS
al-Awadi
S A
SA
D002478:Cells, Cultured; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000235:genetics*