Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies
Journal Article
·
· American Journal of Medical Genetics
- Baylor College of Medicine and the Texas Children`s Hospital, Houston, TX (United States); and others
We describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 (del(17) (q23.2q24.3)) who died on day of life 17 during a recurrent apneic episode. Her phenotype included severe growth retardation, multiple facial anomalies, maldeveloped oralpharyngeal structures, and digital and widespread skeletal anomalies. This patient`s phenotype was compared to two other reported patients with deletion 17q with minor clinical overlap consistent with a unique deletion. 9 refs., 2 figs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 91097
- Journal Information:
- American Journal of Medical Genetics, Vol. 55, Issue 1; Other Information: PBD: 2 Jan 1995
- Country of Publication:
- United States
- Language:
- English
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