Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation

American Journal of Medical Genetics

Volumn 120 A, Issue 2, 2003, Pages 247-252

  Piram, Adriana ^a   Ortolan, Daniela ^a   Peres, Luis Cesar ^a   Pina Neto, João Monteiro ^a   Riegel, Mariluce ^b   Schinzel, Albert ^b  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Duplication of 16q22 qter; Duplication of 9pter q22; Fluorescence in situ hybridization (FISH)

Indexed keywords

ARTICLE; AUTOPSY; CASE REPORT; CEREBELLUM HYPOPLASIA; CHROMOSOME 16Q; CHROMOSOME 21; CHROMOSOME 9P; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; CLINODACTYLY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOOT MALFORMATION; HUMAN; HUMAN TISSUE; INFANT; INTRAUTERINE GROWTH RETARDATION; KIDNEY HYPOPLASIA; LUNG HYPOPLASIA; MALFORMATION SYNDROME; MICROCEPHALY; PARTIAL TRISOMY 9; PORENCEPHALY; PRIORITY JOURNAL;

EID: 0042322952     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10004     Document Type: Article

References (13)

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