American journal of medical genetics, 1993-08, Vol.47 (1), p.85-88
1993
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- Autor(en) / Beteiligte
- Titel
- Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovaries
- Ist Teil von
- American journal of medical genetics, 1993-08, Vol.47 (1), p.85-88
- Ort / Verlag
- New York: Wiley Subscription Services, Inc., A Wiley Company
- Erscheinungsjahr
- 1993
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- We report on the clinical and pathologic findings in a girl with isochromosome 18q (46, XX,i(18q)) who had combined manifestations of monosomy 18p and trisomy 18q. Major congenital anomalies included premaxillary agenesis, alobar holoprosenphaly, double Outlet right ventricle, DiGeorge anomaly and streak ovaries. The clinical spectrum in i(18q) is very broad. © 1993 Wiley‐Liss, Inc.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0148-7299eISSN: 1096-8628DOI: 10.1002/ajmg.1320470117Titel-ID: cdi_proquest_miscellaneous_75941022
- Format
- –
- Schlagworte
- Abnormalities, Multiple - genetics, Chromosome Aberrations, Chromosome Banding, Chromosomes, Human, Pair 18, congenital anomalies, DiGeorge Syndrome - genetics, Female, Holoprosencephaly - genetics, Humans, In Situ Hybridization, Fluorescence, Infant, Newborn, Karyotyping, Monosomy, monosomy 18p, Ovary - abnormalities, Trisomy, trisomy 18q