Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia

American Journal of Medical Genetics, Part A

Volumn 155, Issue 4, 2011, Pages 928-930

  Prontera, Paolo ^a   Stangoni, Gabriela ^b   Ardisia, Carmela ^a   Rogaia, Daniela ^a   Mencarelli, Amedea ^a   Donti, Emilio ^a  

^a UNIVERSITY OF PERUGIA   (Italy)

^b SANTA MARIA DELLA MISERICORDIA HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANOPHTHALMIA; CASE REPORT; CAUDAL DYSGENESIS; CHILD; CHROMOSOME ANALYSIS; CLEFT PALATE; CLUBFOOT; COMPARATIVE GENOMIC HYBRIDIZATION; CRYPTORCHISM; CYTOGENETICS; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; GESTATIONAL AGE; HEARING IMPAIRMENT; HIRSCHSPRUNG DISEASE; HUMAN; KARYOTYPE; LETTER; LIFE EXPECTANCY; MALE; MICROCEPHALY; MOSAICISM; OLIGOHYDRAMNIOS; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SKIN BIOPSY; SPINAL CORD DISEASE; TRISOMY 21;

ANOPHTHALMOS; CAUDA EQUINA; CHILD; CHROMOSOMES, HUMAN, PAIR 2; CYTOGENETIC ANALYSIS; ECTROMELIA; HIRSCHSPRUNG DISEASE; HUMANS; MALE; MOSAICISM; PHENOTYPE; TRISOMY;

EID: 79953311890     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33817     Document Type: Letter

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