Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations.

Journal of medical genetics

Volumn 39, Issue 2, 2002, Pages

  Barbi, G ^a   Rossier, E ^a   Vossbeck, S ^a   Hummler, H ^a   Lang, D ^a   Flock, F ^a   Terinde, R ^a   Wirth, J ^a   Vogel, W ^a   Kehrer Sawatzki, H ^a  

^a UNIVERSITY HOSPITAL ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHROMOSOME 22; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME MAP; ECHOGRAPHY; FEMALE; GENETICS; HUMAN; INFANT; LETTER; NEUROFIBROMATOSIS; PREGNANCY; PRENATAL DIAGNOSIS; SOMATOFORM DISORDER;

CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 22; CYTOGENETIC ANALYSIS; FEMALE; HUMANS; INFANT; NEUROFIBROMATOSIS 2; PREGNANCY; PRENATAL DIAGNOSIS; SOMATOFORM DISORDERS;

EID: 0036483590     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.39.2.e6     Document Type: Letter

References (0)