We report on an 8-year-old boy with a proximal interstitial deletion of the long arm of chromosome 6 with breakpoints q13 to q14.2. He has a characteristic facial appearance that is seen in several of the previously described cases. Details of his clinical course are reviewed and compared with the n
Interstitial deletion (6)q13q15
β Scribed by Gershoni-Baruch, Ruth; Mandel, Hanna; Bar El, Hanna; Bar-Nizan, Noga; Borochowitz, Zvi; Dar, Hanna
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 24 KB
- Volume
- 62
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19960424)62:4<345::aid-ajmg4>3.0.co;2-q
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β¦ Synopsis
We report on a 2-year-old child with psychomotor retardation, facial and urogenital anomalies. His chromosome constitution was 4 6 m , de1(6)(q13q15). This case further contributes to the karyotype-phenotype correlation of proximal deletion 6q syndromes.
π SIMILAR VOLUMES
D u p l i c a t i o n s o f c h r o m o s o m e r e g i o n 15q11q13 often occur as a supernumerary chromosome 15. Less frequently they occur as interstitial duplications [dup(15)]. We describe the clinical and molecular characteristics of three patients with de novo dup(15). The patients, two males
We report on a patient with de novo interstitial deletion of the long arm of chromosome 12: 46,XY,del(12)(q24.31q24.33). To our knowledge this is the first patient with this chromosomal abnormality reported. He was born with minor anomalies, ambiguous genitalia, tracheomalacia, and he was developmen
We describe a 6 1/2-year-old girl with an interstitial deletion of chromosome arm 18q (18q21.1q22.3). Her clinical manifestations are a combination of those found in monosomy 18q syndrome and those of Rett syndrome. Cytogenetic analysis demonstrated a deletion of the long arm of chromosome 18, defin