De novo interstitial deletion of 1p (pter----p34.1::p32.3----qter).

AUTOR(ES)

Yoshino, M

RESUMO

We report a case of a 9 month old girl with a de novo interstitial deletion of 1p, karyotype 46,XX, del(1)(pter----p34.1::p32.3----qter). She had dysmorphic features including upward slanting palpebral fissures, a bulbous nose, a long philtrum, low set and malformed ears, a short neck, hypoplastic nails on both index fingers, widened interdigital spaces between the toes, dilated lateral ventricles, right hydronephrosis, a dilated right ureter, mental and motor developmental delay, and generalised hypotonia.

Documentos Relacionados

• An apparent de novo terminal deletion of chromosome 2 (pter----p24:).
• Schizophrenia and mental retardation in an adult male with a de novo interstitial deletion 9(q32q34.1).
• De novo interstitial deletion del(1)(p21p32).
• Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings.
• Monosomy 13q32.3----qter: report of two cases.