Abstract
Patients with trisomy (1)(q42-qter) present with psychomotor retardation, macrocephaly, occasional presence of facial capillary naevi, cardio-vascular anomalies and small size for gestational age. We report on a girl with the same pattern of malformations, who has pure trisomy 1q43: duplication of the region (1) (q43) and the translocation of the terminal region of the other chromosome 1 to the derivative 1, narrowing down the critical region for the characteristic traits of severe developmental delay, macrocephaly and congenital cardiac malformations.
Original language | English (US) |
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Pages (from-to) | 449-453 |
Number of pages | 5 |
Journal | Genetic Counseling |
Volume | 15 |
Issue number | 4 |
State | Published - 2004 |
Keywords
- Congenital heart defect
- Diabetes mellitus
- Macrocephaly
- Trisomy 1q43
ASJC Scopus subject areas
- Genetics(clinical)