Abstract |
Here we report on a girl with a translocation between 1 and 2 and duplication 1p and deletion 2q resulting in a multiple congenital anomaly syndrome including intrauterine growth retardation, microcephaly, hypotelorism, cleft palate, subglottic stenosis, umbilical hernia, scoliosis, anal atresia, bilateral calcaneovalgus, overlapping toes, and vertebral anomalies.
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Authors | F Halal, M Vekemans, V M Der Kaloustian |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 32
Issue 3
Pg. 376-9
(Mar 1989)
ISSN: 0148-7299 [Print] United States |
PMID | 2658588
(Publication Type: Case Reports, Journal Article, Review)
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Topics |
- Abnormalities, Multiple
(diagnostic imaging, genetics)
- Chromosome Aberrations
- Chromosome Banding
- Chromosome Deletion
- Chromosomes, Human, Pair 1
- Chromosomes, Human, Pair 2
- Female
- Humans
- Infant, Newborn
- Multigene Family
- Radiography
- Translocation, Genetic
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