FULL TRISOMY-22 IN A NEWBORN-INFANT
- 1 January 1987
- journal article
- research article
- Vol. 30 (2) , 101-104
Abstract
Karyotype 47,XY,+22 was found in a newborn infant with primitive and low-set ears, bilateral preauricular pit, broad nasal bridge, antimongoloid palpebral fissures, macroglossia, enlarged sublingual glands, cleft palate, micrognathia, clinodactyly of the fifth fingers, hypoplastic finger nails, hypoplastic genitalia, short lower limbs, bilateral sandal gap and deep plantar furrows. The child developed signs of congenital heart disease and died at the age of 10 weeks. Non-disjunction studies showed maternal origin (meiosis I) of the extra chromosome.This publication has 4 references indexed in Scilit:
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- Incomplete trisomy 22Human Genetics, 1981
- Incomplete trisomy 22Human Genetics, 1981
- The 11q;22q translocation: A European collaborative analysis of 43 casesHuman Genetics, 1980