Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p

American Journal of Medical Genetics, Part A

Volumn 140, Issue 11, 2006, Pages 1219-1222

  Eckel, Heike ^a   Wimmer, Rainer ^a   Volleth, Marianne ^a   Jakubiczka, Sibylle ^a   Muschke, Petra ^a   Wieacker, Peter ^a  

^a OTTO VON GUERICKE UNIVERSITY   (Germany)

Author keywords

Intrachromosomal triplication; Partial tetrasomy 12p mosaicism; Trisomy 12p syndrome

Indexed keywords

DNA;

ADOLESCENT; ALLELE; ANTEVERTED NOSTRIL; ARTICLE; CASE REPORT; CHROMOSOME ABERRATION; CHROMOSOME ARM; CHROMOSOME BANDING PATTERN; CLINICAL FEATURE; DNA PROBE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INTRACHROMOSOMAL TRIPLICATION 12P11.22; INTRACHROMOSOMAL TRIPLICATION 12P12.3; LYMPHOCYTE; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MOSAICISM; PHENOTYPE; PRIORITY JOURNAL; SHORT NOSE; SHORT TANDEM REPEAT; SYMPTOM; TETRASOMY; TETRASOMY 12P; YEAST ARTIFICIAL CHROMOSOME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 12; CRANIOFACIAL ABNORMALITIES; FAMILY HEALTH; FEMALE; GONADS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MENTAL RETARDATION; MOSAICISM;

EID: 33744781590     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31237     Document Type: Article

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