69,XXX KARYOTYPE IN A NEONATE WITH ACROCE PHALOSYNDACTYLY

Authors
SOUA H AYADI A MKADMI T BOUSSOFFARA R YACOUBI MT SANDRA HL SAAD A SFAR MT KORBI S
Citation
H. Soua et al., 69,XXX KARYOTYPE IN A NEONATE WITH ACROCE PHALOSYNDACTYLY, Annales de pediatrie, 43(8), 1996, pp. 586-590
Citations number
25
Categorie Soggetti
Pediatrics
Journal title
Annales de pediatrie → ACNP
ISSN journal
00662097
Volume
43
Issue
8
Year of publication
1996
Pages
586 - 590
Database
ISI
SICI code
0066-2097(1996)43:8<586:6KIANW>2.0.ZU;2-P
Abstract
Triploidy (three haploid sets of chromosomes) is rare in live-born chi ldren. A live-born girl born after 35 weeks of gestation had acrocepha losyndactyly and multiple malformations, She died after two hours as a result of respiratory failure. Triploidy 69,XXX was seen in all the m etaphases of a lymphocyte culture. Evidence suggesting an error in mat ernal gametogenesis (digyny) included hydrocephalus, intrauterine grow th, and live birth near term. The parental origin of triploidy may imp act the embryonic and fetal phenotype, as well as the development of t he placenta.