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Ann Lab Med. 2013 Jan;33(1):69-74. doi: 10.3343/alm.2013.33.1.69. Epub 2012 Dec 17.

Two cases of partial trisomy 4p and partial trisomy 14q.

Author information

1
Department of Pediatrics, Keimyung University School of Medicine, Daegu, Korea.

Abstract

We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent growth retardation and psychomotor developmental delay. Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.

KEYWORDS:

Translocation (4;14); Trisomy 4p; Ttrisomy 14q

PMID:
23301226
PMCID:
PMC3535200
DOI:
10.3343/alm.2013.33.1.69
[Indexed for MEDLINE]
Free PMC Article

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