Distal partial trisomy 1q: report of two cases and a review of the literature.

Distal partial trisomy 1q: report of two cases and a review of the literature. Research Abstract Details 

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Distal partial trisomy 1q: report of two cases and a review of the literature. Abstract Text:

G E Utine,D Aktas,Y Alanay,S ,E Tuncbilek,K Mrasek,T Liehr,G E Utine,D Aktas,Y Alanay,S ,E Tuncbilek,K Mrasek,T Liehr,

We report on two cases with partial trisomy 1q syndrome. One case was a mid-trimester fetus with multiple malformations that was prenatally diagnosed with a de novo distal partial trisomy 1q. Prenatal ultrasound at 24th gestational week demonstrated the presence of cleft lip and palate, increased biparietal diameter and decreased abdominal circumference. Cytogenetic analysis (GTG banding) and subsequent fluorescence in situ hybridization (FISH) using whole chromosome paint 1 and multicolor banding (MCB) demonstrated an aberrant karyotype 46,XY,dup(1)(q31q43 approximately 44). The second case was a newborn male infant with multiple congenital malformations. He had a derivative chromosome 18 as a result of a maternal insertion involving chromosomes 1 and 18. Further analyses including MCB showed his karyotype as 46,XY,ins(18;1)(q22;q23q31.1 approximately 32). The present cases and a review of the literature suggest that partial trisomy of the long arm of chromosome 1 is a distinct clinical entity.

Distal partial trisomy 1q: report of two cases and a review of the literature. Publishing Authors By Initials

GE Utine,D Aktas,Y Alanay,S ,E Tuncbilek,K Mrasek,T Liehr,GE Utine,D Aktas,Y Alanay,S ,E Tuncbilek,K Mrasek,T Liehr,

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Distal partial trisomy 1q: report of two cases and a review of the literature. Journal Published:

PUBLICATION TYPE: Letter

Journal: Prenatal diagnosis

VOLUME: 27

Page Numbers: 865-71

Journal Abbreviation: Prenat. Diagn.

ISSN: 0197-3851

DAY: 3

MONTH: Sep

YEAR: 2007

Distal partial trisomy 1q: report of two cases and a review of the literature. Information

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LANGUAGE: eng

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Country: England

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MEDLINETA: Prenat Diagn

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