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Literature DB >> 3464561

Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1.

C Turleau, F Taillard, M Doussau de Bazignan, N Delépine, J C Desbois, J de Grouchy.

Abstract

Hypomelanosis of Ito (incontinentia pigmenti achromians), a sacrococcygeal complex dysembryoma, seizures, severe cerebral lesions, mental retardation, chorioretinal atrophy, hemihypotrophy of the body, and skeletal anomalies are reported in a female infant of North African origin. Karyotype analysis revealed mosaicism for a microdeletion of the proximal region of 15q similar to that observed in Willi-Prader syndrome. The possibility of gene assignment of Ito's disease or that it may represent a nonspecific marker for mosaicism are discussed.

Entities: Disease Species

Mesh：

Substances：
Genetic Markers

Year: 1986 PMID： 3464561 DOI： 10.1007/BF00282090

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

13 in total

1. Dental dysplasia in incontinentia pigmenti achromians (Ito). An unusual form.

Authors: R M Browne; J P Byrne
Journal: Br Dent J Date: 1976-03-16 Impact factor: 1.626

2. The pallister mosaic syndrome.

Authors: P D Pallister; L F Meisner; B R Elejalde; U Francke; J Herrmann; J Spranger; W Tiddy; S L Inhorn; J M Opitz
Journal: Birth Defects Orig Artic Ser Date: 1977

3. Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11?

Authors: S Gilgenkrantz; P Tridon; N Pinel-Briquel; J Beurey; M Weber
Journal: Ann Genet Date: 1985

Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1.

1. Dental dysplasia in incontinentia pigmenti achromians (Ito). An unusual form.

2. The pallister mosaic syndrome.

3. Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11?

4. Two cases of X/autosome translocation in females with incontinentia pigmenti.

5. Trisomy 14 mosaicism with t(14;15)(q11;p11) in offspring of a balanced translocation carrier mother.

6. Hamartomatous dental cusps in hypomelanosis of Ito.

7. Hypomelanosis of Ito associated with benign tumors and chromosomal abnormalities: a neurocutaneous syndrome.

8. Incontinentia pigmenti achromians (Ito).

9. Hypomelanosis of Ito: association with a chromosomal abnormality.

10. Hypomelanosis of Ito. Report of a case and review of the literature.

1. The mechanisms involved in formation of deletions and duplications of 15q11-q13.

Review 2. Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Review 3. Hypomelanosis of Ito: a round on the frequency and type of epileptic complications.

4. Asymmetry and skin pigmentary anomalies in chromosome mosaicism.

5. Hypomelanosis of ito is frequently associated with autism.

Review 6. Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism.

7. Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

8. Hypomelanosis of Ito: a manifestation of mosaicism or chimerism.

9. A genetic model for the Prader-Willi syndrome and its implication for Angelman syndrome.

10. Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudomosaicism' at amniocentesis.