A Case With Duplication 2q

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Toksoy G., Türköver B. B., Laleli Şahin E., Yeşil G., Sayar C., Duman N., ...More

. 9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Turkey, 1 - 05 December 2010, vol.78, no.1, pp.37

• Publication Type: Conference Paper / Summary Text
• Volume: 78
• City: İstanbul
• Country: Turkey
• Page Numbers: pp.37
• Istanbul University Affiliated: Yes

Abstract

We report here a 5-year-old boy who referred to us from pediatric
neurology clinic due to developmental delay and mild
retardation. . The physical examination revealed dysmorphic
findings like; small dysplastic teeth, low set ears with big pinnae,
straight and long philtrum, distal phalanx hypoplasia,
webbing between phalanges and dry skin with cutis marmoratus.
The cranial MRI revealed; unilateral enlargement of lateral
ventricle. The Giemsa stained karyotyping by high
resolution banding technique and also FISH analysis showed
46,XY,add(2)(q35)ish dup(2)(q35-q36?)(wcp2+) chromosome
constitution de novo. 44K array by CytoSure Analysis was
performed for further investigation of the breakpoints. A
15.566 Mb long gain between 2q33.3 and 2q36.1 were
detected. The genotype phenotype correlations will be discussed
in this report.