Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development

American Journal of Medical Genetics

Volumn 85, Issue 3, 1999, Pages 197-201

  Freedenberg, Debra L ^a   Gane, Louise W ^b   Richards, Carolyn S ^c   Lampe, Megan ^b   Hills, Jennifer ^b   O'Connor, Rebecca ^b   Manchester, David ^b   Taylor, Annette ^d   Tassone, Flora ^d   Hulseberg, Dennis ^e   Hagerman, Randi J ^b   Patil, Shivanand R ^e  

^a Glaucoma Institute of Austin   (United States)

^b CHILDREN S HOSPITAL   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d Kimball Genetics   (United States)

^e UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

Author keywords

Fragile X syndrome; Isodicentric X; Turner phenotype

Indexed keywords

FLUOXETINE; METHYLPHENIDATE;

ADULT; ALLELE; ARTICLE; CASE REPORT; DEVELOPMENTAL DISORDER; DICENTRIC CHROMOSOME; FEMALE; FRAGILE X SYNDROME; HUMAN; IMMINENT ABORTION; KARYOMETRY; MENSTRUATION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PUBERTY; SHORT STATURE; SKELETON MALFORMATION; SPEECH DISORDER; TRINUCLEOTIDE REPEAT; X CHROMOSOME ABERRATION;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME BANDING; FAMILY HEALTH; FEMALE; FRAGILE X SYNDROME; HUMANS; KARYOTYPING; MALE; MENTAL RETARDATION; PEDIGREE; PUBERTY; SEX CHROMOSOME ABERRATIONS; X CHROMOSOME;

EID: 0032993950     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990730)85:3<197::AID-AJMG1>3.0.CO;2-O     Document Type: Article

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