Biomaterial Database

Chromosome 7 short arm deletion, 7p21----pter. 1986

M Schömig-Spingler, and M Schmid, and W Brosi, and T Grimm

A case report of a de novo deletion in the short arm of chromosome 7 is presented (46,XX,del(7)(p21----pter)). The five-month-old girl's major symptoms are: trigonocephalus with craniosynostosis, median bony forehead bulge, high palate, atrial septal defect, anal atresia and perineal fistula, thumb insertion far to ulnar-proximal, and a slightly retarded psychomotor development. The other cases with monosomy 7p described in the literature are reviewed.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
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
D002869	Chromosome Aberrations	Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.	Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D002872	Chromosome Deletion	Actual loss of portion of a chromosome.	Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002897	Chromosomes, Human, Pair 7	A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.	Chromosome 7
D003398	Craniosynostoses	Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.	Acrocephaly,Oxycephaly,Brachycephaly,Craniostenosis,Craniosynostosis,Craniosynostosis, Lambdoidal,Craniosynostosis, Type 1,Lambdoid Synostosis,Metopic Synostosis,Plagiocephaly, Craniosynostosis,Plagiocephaly, Synostotic,Sagittal Synostosis,Scaphocephaly,Synostotic Anterior Plagiocephaly,Synostotic Posterior Plagiocephaly,Trigonocephaly,Unilateral Coronal Synostosis,1 Craniosynostoses, Type,1 Craniosynostosis, Type,Anterior Plagiocephaly, Synostotic,Coronal Synostoses, Unilateral,Coronal Synostosis, Unilateral,Craniostenoses,Craniosynostose,Craniosynostoses, Lambdoidal,Craniosynostoses, Type 1,Craniosynostosis Plagiocephaly,Lambdoid Synostoses,Lambdoidal Craniosynostoses,Lambdoidal Craniosynostosis,Metopic Synostoses,Plagiocephaly, Synostotic Anterior,Plagiocephaly, Synostotic Posterior,Posterior Plagiocephaly, Synostotic,Sagittal Synostoses,Synostoses, Lambdoid,Synostoses, Metopic,Synostoses, Sagittal,Synostoses, Unilateral Coronal,Synostosis, Lambdoid,Synostosis, Metopic,Synostosis, Sagittal,Synostosis, Unilateral Coronal,Synostotic Plagiocephaly,Type 1 Craniosynostoses,Type 1 Craniosynostosis,Unilateral Coronal Synostoses
D005260	Female		Females
D006344	Heart Septal Defects, Atrial	Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects.	Atrial Septal Defects,Ostium Primum Atrial Septal Defect,Persistent Ostium Primum,Atrial Septal Defect,Atrial Septal Defect Ostium Primum,Ostium Secundum Atrial Septal Defect,Defect, Atrial Septal,Ostium Primum, Persistent,Primum, Persistent Ostium,Septal Defect, Atrial
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