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Child with 46, XY/46, XY, 18p- mosaic. 1976

D Duca-Marinescu, and V Ionescu, and T Pop, and L Simionescu, and M Ciovîrnache, and C Maximilian

A 46, XY/46, XY 18 p-mosaic was encountered in a child with cranio-facial dysmorphia, anomalies of the fingers, metaphyseal and epiphyseal dysgenesis, psycho-motor backwardness, anomalies of EEG and convulsions.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
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
D003394 Craniofacial Dysostosis Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia. Crouzon's Disease,Dysostosis, Craniofacial,Craniofacial Dysarthrosis,Craniofacial Dysostosis Syndrome,Craniofacial Dysostosis Type 1,Craniofacial Dysostosis, Type I,Crouzon Craniofacial Dysostosis,Crouzon Disease,Crouzon Syndrome,Craniofacial Dysarthroses,Craniofacial Dysostoses,Craniofacial Dysostosis Syndromes,Craniofacial Dysostosis, Crouzon,Crouzons Disease,Dysarthroses, Craniofacial,Dysarthrosis, Craniofacial,Dysostoses, Craniofacial
D005385 Fingers Four or five slender jointed digits in humans and primates, attached to each HAND. Finger
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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D Duca-Marinescu, and V Ionescu, and T Pop, and L Simionescu, and M Ciovîrnache, and C Maximilian
Prenatal diagnosis of a case of 46,XY,18p-/46,XY,18p+ mosaicism.
January 1989, Prenatal diagnosis,
D Duca-Marinescu, and V Ionescu, and T Pop, and L Simionescu, and M Ciovîrnache, and C Maximilian
[Cyclops with mosaic 46, XY/47, XY, +13].
September 1977, Journal de gynecologie, obstetrique et biologie de la reproduction,
D Duca-Marinescu, and V Ionescu, and T Pop, and L Simionescu, and M Ciovîrnache, and C Maximilian
Mosaic 45,xy,-21/46,xy in a child with G deletion syndrome I.
June 1977, Annales de genetique,
D Duca-Marinescu, and V Ionescu, and T Pop, and L Simionescu, and M Ciovîrnache, and C Maximilian
[46,XY-45,X mosaicism and 18p- deletion].
March 1971, Annales de genetique,
D Duca-Marinescu, and V Ionescu, and T Pop, and L Simionescu, and M Ciovîrnache, and C Maximilian
[True hermaphroditism with chromosome mosaic 46,XX-46,XY].
September 1970, Zentralblatt fur Gynakologie,
D Duca-Marinescu, and V Ionescu, and T Pop, and L Simionescu, and M Ciovîrnache, and C Maximilian
[45,X/ 46,XX/ 46,XY Mosaic with female phenotype].
December 1976, Bulletin de l'Association des anatomistes,
D Duca-Marinescu, and V Ionescu, and T Pop, and L Simionescu, and M Ciovîrnache, and C Maximilian
A case of mosaic Down syndrome with 46,XY/47,XY, + 21/46,XY, + fragment cell lines.
January 1982, Birth defects original article series,
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Chromosome 22 mosaic monosomy (46,XY/45,XY,-22).
January 1987, Annales de genetique,
D Duca-Marinescu, and V Ionescu, and T Pop, and L Simionescu, and M Ciovîrnache, and C Maximilian
46,XY,21qi-46,XY,21p- mosaicism in a child with Down's syndrome.
June 1969, Journal of medical genetics,
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A rare case of mosaic Down syndrome 46,XY/46,XY, -21, +i(21q).
April 1980, Clinical genetics,
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