Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8 [4]

American Journal of Medical Genetics, Part A

Volumn 143, Issue 1, 2007, Pages 92-94

  Varon, Raymonda ^a   Müer, Annika ^a   Wagner, Klaus ^b   Zierler, Hannelore ^b   Sodia, Sigrun ^b   Rauter, Ludwig ^c   Petek, Erwin ^b   Tönnies, Holger ^a   Neitzel, Haidemarie ^a   Sperling, Karl ^a   Kroisel, Peter M ^d  

^a HUMBOLDT UNIVERSITY   (Germany)

^b MEDICAL UNIVERSITY OF GRAZ   (Austria)

^c Leoben Hospital   (Austria)

^d UNIVERSITY OF GREIFSWALD   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CELL DIVISION; CHROMOSOMAL INSTABILITY; CHROMOSOME 14; CHROMOSOME 7; CHROMOSOME 8; CHROMOSOME BANDING PATTERN; CHROMOSOME LOSS; CHROMOSOME MOSAICISM; CHROMOSOME NUMBER; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; CYTOGENETICS; DISEASE ASSOCIATION; DNA DETERMINATION; EXTRACHROMOSOMAL INHERITANCE; FACE DYSMORPHIA; HUMAN; HUMAN CELL; INFANT; LETTER; LOW SET EAR; MALE; MICROCEPHALY; MUTATIONAL ANALYSIS; NEWBORN; NIJMEGEN BREAKAGE SYNDROME; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RETROGNATHIA; TRISOMY; UNIPARENTAL DISOMY;

ADULT; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; MOTHERS; NIJMEGEN BREAKAGE SYNDROME; UNIPARENTAL DISOMY;

EID: 33845995116     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31540     Document Type: Letter

References (8)

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