Biomaterial Database

Interstitial deletion of the long arm of chromosome 4. 1988

A E Chudley, and M R Verna, and M Ray, and D Riordan

Section of Clinical Genetics, Children's Hospital, Winnipeg, Manitoba, Canada.

UI	MeSH Term	Description	Entries
D008607	Intellectual Disability	Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)	Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D010855	Pierre Robin Syndrome	Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.	Glossoptosis, Micrognathia, and Cleft Palate,Pierre Robin Sequence,Pierre Robin's Sequence,Pierre-Robin Syndrome,Robin Sequence,Pierre Robins Sequence,Robin Syndrome, Pierre,Sequence, Pierre Robin,Sequence, Pierre Robin's,Sequence, Robin,Syndrome, Pierre Robin,Syndrome, Pierre-Robin
D011666	Pulmonary Valve Stenosis	The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.	Pulmonary Stenosis,Pulmonary Stenoses,Pulmonary Valve Stenoses,Pulmonic Stenosis,Stenoses, Pulmonary,Stenoses, Pulmonary Valve,Stenosis, Pulmonary,Stenosis, Pulmonary Valve,Valvular Pulmonic Stenosis,Pulmonary Stenose,Pulmonic Stenoses,Pulmonic Stenoses, Valvular,Pulmonic Stenosis, Valvular,Stenose, Pulmonary,Stenoses, Pulmonic,Stenosis, Pulmonic,Valvular Pulmonic Stenoses
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D002872	Chromosome Deletion	Actual loss of portion of a chromosome.	Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002894	Chromosomes, Human, Pair 4	A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.	Chromosome 4
D005260	Female		Females
D006330	Heart Defects, Congenital	Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.	Congenital Heart Disease,Heart Abnormalities,Abnormality, Heart,Congenital Heart Defect,Congenital Heart Defects,Defects, Congenital Heart,Heart Defect, Congenital,Heart, Malformation Of,Congenital Heart Diseases,Defect, Congenital Heart,Disease, Congenital Heart,Heart Abnormality,Heart Disease, Congenital,Malformation Of Heart,Malformation Of Hearts
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015	Abnormalities, Multiple	Congenital abnormalities that affect more than one organ or body structure.	Multiple Abnormalities