A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21)

Details

Serval ID
serval:BIB_00752F4BACDF
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21)
Journal
Human Genetics
Author(s)
Jotterand  M., Juillard  E.
ISSN
0340-6717 (Print)
Publication state
Published
Issued date
08/1976
Volume
33
Number
3
Pages
213-22
Notes
Case Reports
Journal Article --- Old month value: Aug 30
Abstract
The first child of a mother with a balanced translocation (9;13) revealed a trisomy for the distal third of 13q. Clinical signs were microcephaly, hemangiomata, long incurved eyelashes, strabismus, enlarged bridge of the nose, abnormally long philtrum, high-arched palate, low set ears, hexadactyly of the four extremities, umbilical and inguinal hernias, neonatal respiratory distress, psychomotor and growth retardation. The proband presented also male pseudohermaphroditism and trigonocephaly. This last trait is the object of a discussion in which cases of partial trisomy 13q cited in the literature are considered for study of the incidence of this dyscephaly in this partial syndrome.
Keywords
Abnormalities, Multiple/genetics Child, Preschool *Chromosome Aberrations *Chromosomes, Human, 13-15 *Chromosomes, Human, 6-12 and X Consanguinity Head/abnormalities Humans Infant Male Pedigree Phenotype Pseudohermaphroditism/genetics *Translocation, Genetic *Trisomy
Pubmed
Web of science
Create date
25/01/2008 14:18
Last modification date
20/08/2019 12:22
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