A new case of partial trisomy 9 is reported. The characteristic clinical features consist of: 1. Microcephaly, enophthalmos, antimongloid slant of the eyes, hypertelorism, protruding ears, large nose, downward slant of the mouth corners, hypoplasia of phalanges. 2. Abnormal dermal ridge system and crease picture: irregularities of the ridge pattern of finger prints, palms and soles, a much reduced total ridge count (TRC), transverse palmar crease on both palms, underdevelopment of the C line. 3 Severe mental retardation. However, this case represents a variation of the chromosomal anomaly described so far, in as much as an important part of the long arm of the additional chromosome 9 is present.

Download full-text PDF

Source

Publication Analysis

Top Keywords

long arm
8
[partial trisomy
4
trisomy partial
4
partial retention
4
retention long
4
arm author's
4
author's transl]
4
transl] case
4
case partial
4
partial trisomy
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!