Biomaterial Database

Abnormalities of human autosomes. I. Ambigous genitalia associated with a translocation 46,XY, t(Cq+;Cq-). 1971

J German, and J L Simpson

Ambiguity of the external genitalia, along with other milder developmental defects, occurred in a boy with an autosomal aberration, translocation between long arms of two of the shorter members of Group C. The case raises the possibility of a specific effect on development of the external genitalia of autosomal loci and emphasizes that pseudohermaphroditism can on occasion result from autosomal abberations.

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
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
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
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
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
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000077	Acetabulum	The part of the pelvis that comprises the pelvic socket where the head of FEMUR joins to form HIP JOINT (acetabulofemoral joint).	Acetabula,Cotyloid Cavity,Acetabulas,Acetabulums,Cavities, Cotyloid,Cavity, Cotyloid,Cotyloid Cavities
D012734	Disorders of Sex Development	In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.	Disorders of Sexual Development,Sex Development Disorders,Sex Differentiation Disorders,Ambiguous Genitalia,Genital Ambiguity,Hermaphroditism,Intersex Conditions,Intersexuality,Pseudohermaphroditism,Sexual Development Disorders,Sexual Differentiation Disorders,Ambiguities, Genital,Ambiguity, Genital,Condition, Intersex,Conditions, Intersex,Differentiation Disorder, Sex,Differentiation Disorder, Sexual,Differentiation Disorders, Sex,Differentiation Disorders, Sexual,Disorder, Sex Differentiation,Disorder, Sexual Differentiation,Disorders, Sex Differentiation,Disorders, Sexual Differentiation,Genital Ambiguities,Genitalia, Ambiguous,Intersex Condition,Intersexualities,Sex Development Disorder,Sex Differentiation Disorder,Sexual Development Disorder,Sexual Differentiation Disorder

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A 46,XX,t(Cp+;Cq-) translocation in a girl with multiple congenital anomalies and in her phenotypically normal father 46,XY,t(Cq+;Cq-).

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Acute leukemia associated with trisomy 8 mosaicism and a familial translocation 46,XY,t(7;20)(p13;p12).

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[Patau's syndrome with single mosaicism: 46,XY,13-,t(13p13p)+46,XY,13-,t(13p13p)+ or 46,XY,13-,(13p13p) and 46,Xy,13-,(13q13q)].

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