Biomaterial Database

Trisomy 6q25 to 6qter in a severely retarded 7-year-old boy with turricephaly, bow-shaped mouth, hypogenitalism and club feet. 1979

W Schmid, and V D'Apuzzo, and E Rossi

Trisomy for a small terminal segment of chromosome 6q produces a characteristic syndrome of malformations and dysmorphic signs which, on the basis of comparison with a previously published case, may be suspected on clinical grounds. The present case concerns a 7-year-old boy, the son of a carrier mother t(6;14)(q25;qter). The main symptoms are: very severe physical and mental retardation, turricephaly, Cupid's bow mouth with narrow lips, almond-shaped eyes with narrow palpebral fissures and ptosis, micropenis with absence of scrotum, club feet, hammer toes, and extension contractures. In addition, there are a great many minor dysmorphic features.

UI	MeSH Term	Description	Entries
D007006	Hypogonadism	Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).	Hypergonadotropic Hypogonadism,Hypogonadism, Isolated Hypogonadotropic,Hypogonadotropic Hypogonadism,Hypogonadism, Hypergonadotropic,Hypogonadism, Hypogonadotropic
D007621	Karyotyping	Mapping of the KARYOTYPE of a cell.	Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297	Male		Males
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
D009056	Mouth Abnormalities	Congenital absence of or defects in structures of the mouth.	Abnormalities, Mouth,Abnormality, Mouth,Mouth Abnormality
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002906	Chromosomes, Human, 6-12 and X	The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.	Chromosomes C,Group C Chromosomes,Chromosomes, Human, 6-12,Chromosome, Group C,Chromosomes, Group C,Group C Chromosome
D003025	Clubfoot	A deformed foot in which the foot is plantarflexed, inverted, and adducted.	Equinovarus,Talipes Equinovarus,Clubfeet,Clubfeet, Congenital,Clubfoot, Congenital,Congenital Talipes Equinovarus,Pie Torcido,Congenital Clubfeet,Congenital Clubfoot,Pie Torcidos,Talipes Equinovarus, Congenital
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
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man