Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster- Hauser (MRKH) syndrome: Two case reports

Orphanet Journal of Rare Diseases

Volumn 4, Issue 1, 2009, Pages

  Bernardini, Laura ^a   Gimelli, Stefania ^b   Gervasini, Cristina ^c   Carella, Massimo ^a   Baban, Anwar ^d   Frontino, Giada ^c   Barbano, Giancarlo ^d   Divizia, Maria Teresa ^d   Fedele, Luigi ^c   Novelli, Antonio ^a   Béna, Frédérique ^b   Lalatta, Faustina ^c   Miozzo, Monica ^c   Dallapiccola, Bruno ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^c UNIVERSITY OF MILAN   (Italy)

^d G GASLINI INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GLUCOSE; LHX 1 PROTEIN; PARATHYROID HORMONE; PROTEIN; TCF 2 PROTEIN; UNCLASSIFIED DRUG; URIC ACID; HEPATOCYTE NUCLEAR FACTOR 1BETA; HNF1B PROTEIN, HUMAN; HOMEODOMAIN PROTEIN; LHX1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGENESIS; AMNION CELL; APGAR SCORE; ARTICLE; AUDIOGRAPHY; BIRTH WEIGHT; BLADDER WALL; BODY HEIGHT; CESAREAN SECTION; CHROMOSOME 17Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CYSTITIS; ECHOCARDIOGRAPHY; ECHOGRAPHY; ELECTROCARDIOGRAM; EYE EXAMINATION; EYEBROW; FACE DYSMORPHIA; FEMALE; FETUS DISEASE; GENETIC COUNSELING; GENETIC SCREENING; GENITAL MALFORMATION; GLUCOSE BLOOD LEVEL; GROWTH CURVE; HEMATOCOLPOS; HEMATOSALPINX; HOLTER MONITORING; HUMAN; HYPEROXALURIA; KARYOTYPE 46,XX; KIDNEY COLLECTING TUBULE; KIDNEY CORTEX; KIDNEY CYST; KIDNEY FUNCTION TEST; KIDNEY MEDULLA; KIDNEY POLYCYSTIC DISEASE; LAPAROSCOPIC SURGERY; LIP DISEASE; LIP HYPERTRICOSIS; LIVER FUNCTION TEST; MENARCHE; MUELLERIAN DUCT; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; ORGAN SIZE; OVARY; OVARY POLYCYSTIC DISEASE; PALPEBRAL FISSURE; PARATHYROID HORMONE BLOOD LEVEL; PATIENT REFERRAL; PRIMARY AMENORRHEA; PROTEIN BLOOD LEVEL; PROTEINURIA; PSYCHOMOTOR DISORDER; RECURRENT DISEASE; ROKITANSKY SYNDROME; TERM BIRTH; TRANSRECTAL ULTRASONOGRAPHY; URIC ACID BLOOD LEVEL; URINALYSIS; UTERINE TUBE DISEASE; UTERUS HORN; UTERUS MALFORMATION; VAGINA APLASIA; VAGINA RECONSTRUCTION; BONE; CASE REPORT; CHROMOSOME 17; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; GENETICS; KIDNEY; MULTIPLE MALFORMATION SYNDROME; SYNDROME; UTERUS; VAGINA;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; BONE AND BONES; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HEART DEFECTS, CONGENITAL; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HOMEODOMAIN PROTEINS; HUMANS; KIDNEY; SYNDROME; UTERUS; VAGINA;

EID: 72849131881     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-4-25     Document Type: Article

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