Biomaterial Database

Interstitial deletion 2q31 leads to q33. 1983

P D Buchanan, and R L Rhodes, and C E Stevenson

We present an 8-month-old female with severe retardation of growth and development, multiple congenital anomalies, and an interstitial deletion del(2)(q31 leads to q33) including results of cytogenetic and gene marker studies. The manifestations of this infant are compared with those of four other known patients with a partial del(2q).

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D011247	Pregnancy	The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.	Gestation,Pregnancies
D011596	Psychomotor Disorders	Abnormalities of motor function that are associated with organic and non-organic cognitive disorders.	Psychomotor Impairment,Developmental Psychomotor Disorders,Psychomotor Disorders, Developmental,Developmental Psychomotor Disorder,Impairment, Psychomotor,Impairments, Psychomotor,Psychomotor Disorder, Developmental,Psychomotor Impairments
D002872	Chromosome Deletion	Actual loss of portion of a chromosome.	Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002900	Chromosomes, Human, 1-3	The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.	Chromosomes A,Group A Chromosomes,Chromosome, Group A,Chromosomes, Group A,Group A Chromosome
D005145	Face	The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw.	Faces
D005260	Female		Females
D005317	Fetal Growth Retardation	Failure of a FETUS to attain expected GROWTH.	Growth Retardation, Intrauterine,Intrauterine Growth Retardation,Fetal Growth Restriction,Intrauterine Growth Restriction
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