A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia.

Author:

Calabrese G,Franchi P G,Stuppia L,Mingarelli R,Rossi C,Ramenghi L,Marino M,Morizio E,Peila R,Antonucci A

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference15 articles.

1. One gene - four syndromes;van Heyningen V;Nature,1994

2. High resolution of human chromosomes. Science present patient also showed some features, such as downward slanting palpebral fissures, ear;Yunis, J.J.,1976

3. Cytogenetic analysis using quantatitive high-sensitivity fluorescence hybridization. anomalies, micrognathia, hypocalcaemia, and depletion of;Pinkel, D.; Straume, T.; Gray, V.W.,1986

4. In situ hybridization banding of human chromosomes with Alu-PCR products: a simultanreported previously in del(lOp) patients manifesting the DiGeorge phenotype.2324 This evideous karyotype for gene mapping studies;Baldini, A.; Ward, D.C.;Genomics,1991

5. A gene for Hirschsprung ence supports the hypothesis of another possible locus for DiGeorge syndrome in lOp13.24 disease maps to proximal long arm of chromosome 10;Lyonnet, S.; Bolino, A.; Pelet, A.;Nature Genet,1993

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