A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations

American Journal of Medical Genetics, Part A

Volumn 167, Issue 8, 2015, Pages 1865-1871

  Bravo Oro, Antonio ^a   Lurie, Iosif W ^b   Elizondo Cárdenas, Gabriela ^c   Peña Zepeda, Claudia ^a   Salazar Martínez, Abel ^a   Correa González, Cecilia ^a   Castrillo, José Luis ^d   Avila, Silvia ^d   Esmer, Carmen ^a  

^a HOSPITAL CENTRAL DR IGNACIO MORONES PRIETO   (Mexico)

^b Chromosome Disorder Outreach ^*  (United States)

^c UNIVERSIDAD AUTÓNOMA DE NUEVO LEÓN   (Mexico)

^d Laboratorio Genetadi Biotech   (Spain)

Author keywords

2q22.3 q23.3 deletion; Aplastic anemia; Array comparative genomic hybridization (CGH); Brachydactyly A1; Hirschsprung disease

Indexed keywords

ANTICONVULSIVE AGENT; DNA;

ACVR2 GENE; ARTICLE; BIRTH WEIGHT; BLOOD EXAMINATION; BLOOD TRANSFUSION; BONE MARROW BIOPSY; BRACHYDACTYLY; BRAIN ATROPHY; CASE REPORT; CAUSE OF DEATH; CHROMOSOME DELETION 2Q22; CHROMOSOME DELETION Q23; COLON AGANGLIONOSIS; COLON BIOPSY; COLOSTOMY; COMPARATIVE GENOMIC HYBRIDIZATION; CONSTIPATION; CRYPTORCHISM; EPC2 GENE; EPILEPSY; EPILEPTIC STATE; ERYTHROBLAST; ERYTHROCYTE COUNT; FACE DYSMORPHIA; FEBRILE CONVULSION; GASTROINTESTINAL MOTILITY DISORDER; GENE; GESTATIONAL AGE; HAND DISEASE; HAPLOINSUFFICIENCY; HEAD CIRCUMFERENCE; HIRSCHSPRUNG DISEASE; HIRSUTISM; HUMAN; HUMAN TISSUE; HYPOTELORISM; INFANT; INTERSTITIAL CHROMOSOME DELETION; INTESTINE DISTENSION; JAUNDICE; KIF5C GENE; MALE; MBD5 GENE; MICROCEPHALY; MUSCLE HYPOTONIA; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE ANOMALY; PHYSICAL EXAMINATION; PNEUMONIA; PRIORITY JOURNAL; PURE RED CELL ANEMIA; RESPIRATORY DISTRESS; SEPTIC SHOCK; SKELETON MALFORMATION; SYNDACTYLY; TOE; URINARY TRACT INFECTION; VISUAL DISORDER; BONE; CHROMOSOME 2; CHROMOSOME DELETION; CONGENITAL MALFORMATION; GENETICS;

BONE AND BONES; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; EPILEPSY; HUMANS; INFANT, NEWBORN; MALE; RED-CELL APLASIA, PURE;

EID: 84937968733     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36806     Document Type: Article

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