First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation

American Journal of Medical Genetics, Part A

Volumn 143, Issue 11, 2007, Pages 1236-1243

  Dupont, Celine ^a   Lebbar, Aziza ^a   Teinturier, Cecile ^b   Baverel, Françoise ^a   Viot, Geraldine ^a   Le Tessier, Dominique ^a   Le Bozec, Jerome ^c   Cuisset, Laurence ^c   Dupont, Jean Michel ^a  

^a Unité INSERM U709 ^*  (France)

^b HÔPITAL SAINT VINCENT DE PAUL   (France)

^c INSTITUT COCHIN   (France)

Author keywords

inv dup del; NAHR; SHOX; Small stature; Xp deletion

Indexed keywords

GROWTH HORMONE;

ARSE GENE; ARTICLE; BEHAVIOR DISORDER; CASE REPORT; CHROMATID ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME ARM; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; CHROMOSOME XP; DYSCHONDROSTEOSIS; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HOMOLOGOUS RECOMBINATION; HUMAN; KAL1 GENE; KARYOTYPING; MALE; MENTAL DEFICIENCY; MICROSATELLITE MARKER; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; SHOX GENE; STS GENE; VCX A GENE;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; FOREARM; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; KARYOTYPING; MALE; MENTAL RETARDATION; MODELS, GENETIC;

EID: 34249899395     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31744     Document Type: Article

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