De novo interstitial tandem duplication of chromosome 4(q21-q28)
Journal Article
·
· American Journal of Medical Genetics
DOI:https://doi.org/10.1002/(SICI)1096-8628(19960329)62:3<297::AID-AJMG18>3.0.CO;2-F·
OSTI ID:426145
- Hospital Virgen de la Arrixaca, Murcia (Spain); and others
We describe a girl with a previously unreported de novo duplication of chromosome 4q involving segment q21-q28. Clinical manifestations included growth and psychomotor retardation, facial asymmetry, hypotelorism, epicanthic folds, mongoloid slant of palpebral fissures, apparently low-set auricles, high nasal bridge, long philtrum, small mouth, short neck, low-set thumbs, and bilateral club foot. This phenotype is compared with that of previously reported cases of duplication 4q. 12 refs., 3 figs., 1 tab.
- OSTI ID:
- 426145
- Journal Information:
- American Journal of Medical Genetics, Vol. 62, Issue 3; Other Information: PBD: 29 Mar 1996
- Country of Publication:
- United States
- Language:
- English
Similar Records
Study of two patients with craniosynostosis and deletions of 11q: One with features of Saethre-Chotzen syndrome and the other with concomitant partial trisomy 4q
De novo interstitial deletions of 9q22.1-22.3 in two unrelated cases with different phenotype
Detection of a complex translocation using fluorescent in situ hybridization (FISH)
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:426145
De novo interstitial deletions of 9q22.1-22.3 in two unrelated cases with different phenotype
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:426145
Detection of a complex translocation using fluorescent in situ hybridization (FISH)
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:426145