Biomaterial Database

[Hypomelanosis Ito in translocation trisomy 9/mosaicism (46,XX/46,XX,t(9;9)(p24;p24)). Spontaneous remission in childhood]. 2000

M Dereser-Dennl, and E Brude, and R König

Institut für Humangenetik, Universitäts-Klinikum Frankfurt/M.

A 4 5/12 years old girl with hypomelanosis of Ito (HI) presented on the 3rd day of life with hypopigmented streaks and whorls following the lines of Blaschko on the back, the arms and the legs. In addition, patchy depigmented areas were present on the trunk. Extracutaneous manifestations included dystopia of the right kidney, atrial septal defect, persistent ductus arteriosus, hearing impairment, EEG abnormalities, and asymmetric dilatation of the ventricle system and a vermal atrophy as documented in the MRT of the brain. Cytogenetic analysis showed a mosaic 46,XX/46,XX,t(9;9)(p24;p24) present in the lymphocytes and skin fibroblasts. The mother's karyotype in her lymphocytes was normal. At reexamination at the age of 4 5/12 years the girl was retarded. In particular, the speech development was severely delayed. Interestingly we found only very small areas of hypopigmentation, which, unless one knew the previous findings, would not have been diagnostic.

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
D010859	Pigmentation Disorders	Diseases affecting PIGMENTATION, including SKIN PIGMENTATION.	Incontinentia Pigmenti Achromians,Ito Syndrome,Schamberg's Disease,Schamberg Disease,Disease, Schamberg,Disease, Schamberg's,Disorder, Pigmentation,Disorders, Pigmentation,Pigmentation Disorder,Schambergs Disease,Syndrome, Ito
D012075	Remission, Spontaneous	A spontaneous diminution or abatement of a disease over time, without formal treatment.	Spontaneous Healing,Spontaneous Regression,Spontaneous Remission,Healing, Spontaneous,Regression, Spontaneous,Spontaneous Healings,Spontaneous Regressions
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D002899	Chromosomes, Human, Pair 9	A specific pair of GROUP C CHROMSOMES of the human chromosome classification.	Chromosome 9
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005260	Female		Females
D005500	Follow-Up Studies	Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.	Followup Studies,Follow Up Studies,Follow-Up Study,Followup Study,Studies, Follow-Up,Studies, Followup,Study, Follow-Up,Study, Followup
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014178	Translocation, Genetic	A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.	Chromosomal Translocation,Translocation, Chromosomal,Chromosomal Translocations,Genetic Translocation,Genetic Translocations,Translocations, Chromosomal,Translocations, Genetic