Congenital limb and hand anomalies

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• HİLAL ÖZDAĞ SEVGİLİ

Preaxial polydactyly (PPD) is a common limb malformation in human. A number of polydactylous mouse mutants indicate that misexpression of Shh is a common requirement for generating extra digits. Here we identify a translocation breakpoint in a PPD patient and a transgenic insertion site in the polydactylous mouse muta…

• AYŞE NURTEN AKARSU

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• KADİR DESDİCİOĞLU

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• HÜLYA KAYSERİLİ KARABEY

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• HÜLYA KAYSERİLİ KARABEY

Synpolydactyly (SPD) is a limb malformation that shows a characteristic manifestation in both hands and feet. This condition is inherited as an autosomal dominant trait with reduced penetrance. We have recently mapped this locus centromeric to the HOXD8 intragenic marker and suggested the HOXD13 gene as a potential ca…

• AYŞE NURTEN AKARSU

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Werner mesomelic syndrome (WMS) is an autosomal dominant disorder with unknown molecular etiology characterized by hypo- or aplasia of the tibiae in addition to the preaxial polydactyly (PPD) of the hands and feet and/or five-fingered hand with absence of thumbs. We show that point mutations of a specific nucleotide w…

• AYŞE NURTEN AKARSU

Roberts syndrome/SC phocomelia (RBS) is an autosomal recessive disorder with growth retardation, craniofacial abnormalities and limb reduction. Cellular alterations in RBS include lack of cohesion at the heterochromatic regions around centromeres and the long arm of the Y chromosome, reduced growth capacity, and hyper…

• HÜLYA KAYSERİLİ KARABEY

BACKGROUND: Turner's syndrome (TS) is depicted as a total or partial absence of one X chromosome that results in ovarian dysgenesis. Chances of spontaneous pregnancy in TS are rare and the outcome of the pregnancies is known to be poor with an increased risk of miscarriage and stillbirths. Our aim is to evaluate repro…

• AHMET YİĞİT ÇAKIROĞLU

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• AHMET FAHİR DEMİRKAN