Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2; 12)(p25.1;q24.1).

Murray, R S; Keeling, J W; Ellis, P M; FitzPatrick, D R

Murray, R S; Keeling, J W; Ellis, P M; FitzPatrick, D R.

Affiliation

Murray RS; South East Scotland Cytogenetics Service, Western General Hospital, Edinburgh, UK.

Clin Dysmorphol ; 11(2): 87-90, 2002 Apr.

Article in En | MEDLINE | ID: mdl-12002154

Subject(s)

Chromosomes, Human, Pair 12; Chromosomes, Human, Pair 2; Ectromelia/genetics; Translocation, Genetic; Amniocentesis; Chromosome Banding; Ectromelia/embryology; Female; Fetus/abnormalities; Humans; Karyotyping; Lower Extremity Deformities, Congenital/embryology; Lower Extremity Deformities, Congenital/genetics; Pregnancy; Upper Extremity Deformities, Congenital/embryology; Upper Extremity Deformities, Congenital/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Translocation, Genetic / Chromosomes, Human, Pair 2 / Chromosomes, Human, Pair 12 / Ectromelia Type of study: Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Pregnancy Language: En Journal: Clin Dysmorphol Journal subject: TERATOLOGIA Year: 2002 Document type: Article Affiliation country: United kingdom Country of publication: United kingdom

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