Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion

European Journal of Medical Genetics

Volumn 56, Issue 9, 2013, Pages 521-525

  Hickey, Scott E ^a   Biswas, Sawona ^a   Thrush, Devon Lamb ^a,b   Pyatt, Robert E ^a,b   Gastier Foster, Julie M ^a,b   Astbury, Caroline ^a,b   Atkin, Joan ^a  

^a THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^b NATIONWIDE CHILDREN S HOSPITAL   (United States)

Author keywords

4q Deletion; Developmental delay; Microarray; Short stature syndrome

Indexed keywords

CARBAMAZEPINE; LANSOPRAZOLE; METOCLOPRAMIDE; OLIGONUCLEOTIDE; OMEPRAZOLE; RANITIDINE;

ADULT; ANTICONVULSANT THERAPY; ANUS ATRESIA; ARTICLE; CHILD; CHROMOSOME 4Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 4; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONDUCTION DEAFNESS; CONSTIPATION; FACE DYSMORPHIA; FAILURE TO THRIVE; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GASTROESOPHAGEAL REFLUX; GENETIC ASSOCIATION; GROWTH RETARDATION; HEART ATRIUM SEPTUM DEFECT; HEART CATHETERIZATION; HUMAN; HYPERTELORISM; MACROCEPHALY; MALE; MEGACOLON; MICROARRAY ANALYSIS; MIDFACE HYPOPLASIA; MYRINGOTOMY TUBE; NUCLEAR MAGNETIC RESONANCE IMAGING; OPITZ SYNDROME; PEDIGREE; PTOSIS; SCHOOL CHILD; SHORT STATURE; TONIC CLONIC SEIZURE;

4Q DELETION; DEVELOPMENTAL DELAY; MICROARRAY; SHORT STATURE SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; DEVELOPMENTAL DISABILITIES; FEMALE; GROWTH DISORDERS; HUMANS; INFANT, NEWBORN; MALE; PEDIGREE; SYNDROME;

EID: 84884186920     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.07.004     Document Type: Article

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