Ring chromosome 9 in a newborn male presenting with facial dysmorphia, hypospadias and skeletal abnormalities

L Van Maldergem; F Avni; B Mossay; C Herens; A Verloes; Y Gillerot

Ring chromosome 9 in a newborn male presenting with facial dysmorphia, hypospadias and skeletal abnormalities

Genet Couns. 1991;2(2):123-7.

Authors

L Van Maldergem¹, F Avni, B Mossay, C Herens, A Verloes, Y Gillerot

Affiliation

¹ Department of Medical Genetics, Institut de Morphologie Pathologique, Loverval.

PMID: 1781957

Abstract

A newborn male presenting with a peculiar appearance, hypertonia, a flexum attitude, hypospadias and skeletal abnormalities was found to bear a r 9 chromosome. A phenotypic distinction between early and late presenting forms is discussed.

MeSH terms

Chromosome Aberrations*
Chromosomes, Human, Pair 9*
Face / abnormalities*
Humans
Hypospadias / diagnosis
Hypospadias / genetics*
Infant
Infant, Newborn
Musculoskeletal Abnormalities*