Chromosome and p63 Gene Analysis of an Infant with Ectrodactyly&#8211;Split Hand and Foot Malformation

Osman DEMİRHAN

Makale detayları

Chromosome and p63 Gene Analysis of an Infant with Ectrodactyly–Split Hand and Foot Malformation

Yazarlar:

Osman DEMİRHAN

Yayıncı:

TUBITAK

Dergi:

Turkish Journal of Medical Sciences 2007 Vol.37 Issue 3, pp.167-171

Belge Tipi:

Makale

Yayın Tarihi:

2/2007

Belge Dili:

Türkçe

Document ID (Org No.):

2000756018

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144

Anahtar kelimeler:

Özet:

 

Aim: Split hand-split foot malformation (SHFM) results from central ray reduction and presents as median clefts of the hands and feet, syndactyly, aplasia or hypoplasia of the phalanges, metacarpals and metatarsals, which are frequently associated with other phenotypic abnormalities. We aimed to investigate the genetic pathway of SHFM in a child.   Materials and methods: Cytogenetic and molecular genetic analysis was performed in a 10-day-old boy with split-syndactyly hand and flat-syndactyly foot.   Results: We found a complex chromosomal rearrangement including breaks in 4q12, fragility in the 9q11-13 band region and 9qh+. Cytogenetic results agree with the literature findings. The mutation analysis of the p63 gene revealed no mutation.   Conclusion: The phenotype of our patient may be due to variable expressivity and penetrance of the p63 gene and to other genetic factors, or the mutation can be located in the other 4 loci for SHFM. Additional minor modifying genes, which predispose to non-syndromic cleft palate, could also contribute to the expression of the cleft palate component of the EEC syndrome.

 

Aim: Split hand-split foot malformation (SHFM) results from central ray reduction and presents as median clefts of the hands and feet, syndactyly, aplasia or hypoplasia of the phalanges, metacarpals and metatarsals, which are frequently associated with other phenotypic abnormalities. We aimed to investigate the genetic pathway of SHFM in a child.   Materials and methods: Cytogenetic and molecular genetic analysis was performed in a 10-day-old boy with split-syndactyly hand and flat-syndactyly foot.   Results: We found a complex chromosomal rearrangement including breaks in 4q12, fragility in the 9q11-13 band region and 9qh+. Cytogenetic results agree with the literature findings. The mutation analysis of the p63 gene revealed no mutation.   Conclusion: The phenotype of our patient may be due to variable expressivity and penetrance of the p63 gene and to other genetic factors, or the mutation can be located in the other 4 loci for SHFM. Additional minor modifying genes, which predispose to non-syndromic cleft palate, could also contribute to the expression of the cleft palate component of the EEC syndrome.

Makale detayları

Chromosome and p63 Gene Analysis of an Infant with Ectrodactyly–Split Hand and Foot Malformation

Yazarlar:

Osman DEMİRHAN

Yayıncı:

TUBITAK

Dergi:

Turkish Journal of Medical Sciences 2007 Vol.37 Issue 3, pp.167-171

Belge Tipi:

Makale

Yayın Tarihi:

2/2007

Belge Dili:

Türkçe

Document ID (Org No.):

2000756018

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144

Ectrodactyly

bilateral syndactyly

flat-syndactyly foot

split-syndactyly hand

p63 gene

cytogenetics

Sayı

Makale detayları

Chromosome and p63 Gene Analysis of an Infant with Ectrodactyly&#8211;Split Hand and Foot Malformation

Yazarlar: Osman DEMİRHAN

Yayıncı: TUBITAK

Dergi: Turkish Journal of Medical Sciences 2007 Vol.37 Issue 3, pp.167-171

Belge Tipi: Makale

Yayın Tarihi: 2/2007

Belge Dili: Türkçe

Document ID (Org No.): 2000756018

Sıklık: İki Aylık

eISSN: 1303-6165

pISSN: 1300-0144

Ectrodactyly

bilateral syndactyly

flat-syndactyly foot

split-syndactyly hand

p63 gene

cytogenetics

Sayı

Chromosome and p63 Gene Analysis of an Infant with Ectrodactyly–Split Hand and Foot Malformation

Yazarlar:

Osman DEMİRHAN

Yayıncı:

TUBITAK

Dergi:

Turkish Journal of Medical Sciences 2007 Vol.37 Issue 3, pp.167-171

Belge Tipi:

Makale

Yayın Tarihi:

2/2007

Belge Dili:

Türkçe

Document ID (Org No.):

2000756018

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144