Prenatal diagnosis of partial trisomy 14q (14q31.1-->qter) and partial monosomy 5p (5p13.2-->pter) associated with polyhydramnios, short limbs, micropenis and brain malformations.

Chen, C P; Chern, S R; Tsai, E J; Lee, C C; Chen, L F; Wang, W

Chen, C P; Chern, S R; Tsai, E J; Lee, C C; Chen, L F; Wang, W.

Genet Couns ; 20(3): 281-8, 2009.

Article in En | MEDLINE | ID: mdl-19852436

Subject(s)

Abnormalities, Multiple/genetics; Amniocentesis; Brain/abnormalities; Chromosome Deletion; Chromosomes, Human, Pair 14/genetics; Chromosomes, Human, Pair 5/genetics; Ectromelia/genetics; Penis/abnormalities; Polyhydramnios/genetics; Trisomy/genetics; Ultrasonography, Prenatal; Abnormalities, Multiple/diagnosis; Abortion, Eugenic; Adult; Ectromelia/diagnosis; Female; Humans; Infant, Newborn; Male; Phenotype; Polyhydramnios/diagnosis; Pregnancy

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Collection: 01-internacional Database: MEDLINE Main subject: Penis / Trisomy / Abnormalities, Multiple / Chromosomes, Human, Pair 5 / Chromosomes, Human, Pair 14 / Brain / Ultrasonography, Prenatal / Chromosome Deletion / Polyhydramnios / Ectromelia Type of study: Diagnostic_studies / Risk_factors_studies Limits: Adult / Female / Humans / Male / Newborn / Pregnancy Language: En Journal: Genet Couns Year: 2009 Document type: Article

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