Mother and daughter with a terminal Xp deletion: Implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome

European Journal of Medical Genetics

Volumn 50, Issue 6, 2007, Pages 421-431

  Wimplinger, Isabella ^a   Rauch, Anita ^b   Orth, Ulrike ^a   Schwarzer, Ulrich ^c   Trautmann, Udo ^b   Kutsche, Kerstin ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^c Nuremberg City Hospital   (Germany)

Author keywords

Chromosomal mosaicism; MIDAS; Phenotypic variability; X inactivation; Xp deletion

Indexed keywords

ARTICLE; BLASTOCYTE; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME MOSAICISM; CHROMOSOME XP; CONGENITAL HEART MALFORMATION; CORNEA DISEASE; CORPUS CALLOSUM; CORPUS CALLOSUM AGENESIS; CYTOGENETICS; DISEASE COURSE; FEMALE; HAPLOTYPE; HUMAN; INFANT; MICROPHTHALMIA; MICROPHTHALMIA WITH LINEAR SKIN DEFECT SYNDROME; MOTHER CHILD RELATION; PHENOTYPE; SKIN APLASIA; X CHROMOSOME; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER;

ADULT; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; FEMALE; HUMANS; MALE; MICROPHTHALMOS; MOSAICISM; MOTHERS; NUCLEAR FAMILY; PEDIGREE; SKIN ABNORMALITIES; SYNDROME; X CHROMOSOME INACTIVATION;

EID: 36448937824     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.07.004     Document Type: Article

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