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Literature DB >> 4065895

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

S V Hodgson, B Neville, R W Jones, C Fear, M Bobrow.

Abstract

We report two unrelated girls who present some clinical features of severe incontinentia pigmenti (IP), with characteristic skin pigmentation. Both have balanced de novo X/autosome translocations involving band Xp11. The coincidence of the probable de novo expression of an X-linked disorder in these two girls with translocations involving similar breakpoints on the X chromosome suggests that this band may be the site of the IP gene locus.

Entities: Disease Species

Mesh：

Year: 1985 PMID： 4065895 DOI： 10.1007/BF00284581

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

28 in total

1. Letter: Half chromatid mutations may explain incontinentia pigmenti in males.

Authors: W Lenz
Journal: Am J Hum Genet Date: 1975-09 Impact factor: 11.025

2. [On the genetics of incontinentia pigmenti].

Authors: W LENZ
Journal: Ann Paediatr Date: 1961

3. Hypomelanosis of Ito ("incontinentia pigmenti achromians"). Report of three cases and review of the literature.

Authors: J E Jelinek; R S Bart; S M Schiff
Journal: Arch Dermatol Date: 1973-04

4. 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

5. Aarskog syndrome: full male and female expression associated with an X-autosome translocation.

Authors: E Bawle; M Tyrkus; S Lipman; D Bozimowski
Journal: Am J Med Genet Date: 1984-03

6. Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD.

Authors: B S Emanuel; E H Zackai; S H Tucker
Journal: J Med Genet Date: 1983-12 Impact factor: 6.318

7. Incontinentia pigmenti in Arizona Indians including transmission from mother to son inconsistent with the half chromatid mutation model.

Authors: F Hecht; B K Hecht; W J Austin
Journal: Clin Genet Date: 1982-05 Impact factor: 4.438

8. X-autosome translocations: cytogenetic characteristics and their consequences.

Authors: M G Mattei; J F Mattei; S Ayme; F Giraud
Journal: Hum Genet Date: 1982 Impact factor: 4.132

9. Turner's syndrome and Duchenne muscular dystrophy in a girl with an X; autosome translocation.

Authors: L Bjerglund Nielsen; I M Nielsen
Journal: Ann Genet Date: 1984

10. The Bloch-Sulzberger syndrome (incontinentia pigmenti).

Authors: H HABER
Journal: Br J Dermatol Date: 1952-04 Impact factor: 9.302

28 in total

1. X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease.

Authors: A Harris; J Collins; D Vetrie; C Cole; M Bobrow
Journal: J Med Genet Date: 1992-09 Impact factor: 6.318

10. Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia.

Authors: R Coleman; S A Genet; J I Harper; A O Wilkie
Journal: J Med Genet Date: 1993-06 Impact factor: 6.318

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

1. Letter: Half chromatid mutations may explain incontinentia pigmenti in males.

2. [On the genetics of incontinentia pigmenti].

3. Hypomelanosis of Ito ("incontinentia pigmenti achromians"). Report of three cases and review of the literature.

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

5. Aarskog syndrome: full male and female expression associated with an X-autosome translocation.

6. Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD.

7. Incontinentia pigmenti in Arizona Indians including transmission from mother to son inconsistent with the half chromatid mutation model.

8. X-autosome translocations: cytogenetic characteristics and their consequences.

9. Turner's syndrome and Duchenne muscular dystrophy in a girl with an X; autosome translocation.

10. The Bloch-Sulzberger syndrome (incontinentia pigmenti).

1. X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease.

2. Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2.

3. Genes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes.

4. Familial whole-arm translocations (1;19), (9;13), and (12;21): a review of 101 constitutional exchanges.

Review 5. Mapping dysmorphic syndromes with the aid of the human/mouse homology map.

Review 6. Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.

7. Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito.

8. Incontinentia pigmenti in a boy with Klinefelter's syndrome.

9. A de novo X;13 translocation with abnormal phenotype.

10. Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia.