THE 22Q DISTAL TRISOMY SYNDROME IN A RECOMBINANT CHILD
- 1 January 1988
- journal article
- research article
- Vol. 31 (1) , 47-49
Abstract
A 4-month-old male infant with 22q distal trisomy and karyotype 46,XY,rec(22), dup q,inv(22)(q13q12)mat is reported. This and six previous similar instances are compared, and a distinct syndrome is delineated as follows: growth and psychomotor retardation, microcephaly or hydrocephaly, brain malformation, defective skull ossification, hypertelorism, narrow palpebral fissures, short broad nose, cleft palate with or without lip involvement, short neck, cardiac defects, renal and genital hypoplasia, osteoarticular abnormalities (mostly clubfoot), and poor survival. In addition, this syndrome is distinct from other duplications of chromosome 22, namely the complete trisomy, the proximal trisomy, and the cat-eye phenotype.This publication has 5 references indexed in Scilit:
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- Partial trisomy for the distal part of chromosome 22 (22q12→qter) in a mentally retarded girl with congenital birth defectsHereditas, 2008
- A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome.Journal of Medical Genetics, 1985
- Incomplete trisomy 22Human Genetics, 1981
- TRISOMY 22Q12-]QTER - ANEUSOMIE-DE-RECOMBINAISON OF A PERICENTRIC-INVERSION1981