Tissue-limited mosaicism for monosomy 13

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 10, 2010, Pages 2634-2639

  Golabi, Mahin ^a   James, Aaron W ^b   Good, William V ^c   Cotter, Philip D ^b,d,e  

^a SAN FRANCISCO GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c CALIFORNIA PACIFIC MEDICAL CENTER   (United States)

^d CHILDREN S HOSPITAL OAKLAND   (United States)

^e Pacific Diagnostics   (United States)

Author keywords

Chromosome 13; Fibroblasts; Hypomelanosis of Ito; Monosomy; Mosaicism

Indexed keywords

ARTICLE; CASE REPORT; CATARACT; CHROMOSOME MOSAICISM; CLINODACTYLY; COLOBOMA; CORPUS CALLOSUM AGENESIS; CRYPTORCHISM; DEVELOPMENTAL DISORDER; EPICANTHUS; FIBROBLAST; HUMAN; HYPERTELORISM; HYPOSPADIAS; INFANT; INGUINAL HERNIA; KARYOTYPE; KARYOTYPING; KIDNEY HYPOPLASIA; LIMB MALFORMATION; LOW SET EAR; MALE; MICROCEPHALY; MICROGNATHIA; MICROPHTHALMIA; MONOSOMY; MONOSOMY 13; NEWBORN; PATENT FORAMEN OVALE; PES EQUINOVARUS; PRIORITY JOURNAL; PTOSIS; RETINOBLASTOMA; SCANTY HAIR; ADULT; CHROMOSOME 13; CHROMOSOME DELETION; FEMALE; GENE DELETION; GENETICS; MOSAICISM; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; SKIN DISEASE;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 13; FEMALE; HUMANS; KARYOTYPING; MALE; MOSAICISM; SEQUENCE DELETION; SKIN DISEASES;

EID: 78349302676     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33651     Document Type: Article

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