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

Turleau, C; Taillard, F.; Bazignan, M. Doussau De; Delepine, N.; Jc, Desbois; Grouchy, J. de

doi:10.1007/bf00282090

Cited by 55 publications

(25 citation statements)

References 9 publications

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“…The relationship between chromosomal mosaicism and anomalous pigmentation has been well established in the literature (Turleau et al 1986;Thomas et al 1989;Ritter et al 1990;Sybert et al 1990;Lenzini et al 1991). Numerous chromosomal abnormalities have been reported in patients with pigmentary anomalies; however, there has not been a consistent chromosomal finding.…”

Section: Discussionmentioning

confidence: 95%

“…There are two prior reports of patients with HMI and rearrangements involving 15qll. Turleau et al (1986) reported a female with HMI and mosaicism for a microdeletion of 15qll. That patient presented with a complex sacrococcygeal dysembryoma, seizures, severe cerebral lesions, chorioretinal atrophy, hemiatrophy, mental retardation, and skeletal anomalies.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 1995

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We report a patient with mental retardation, behavioral disturbances, and pigmentary anomalies, consistent with the phenotype of hypomelanosis of Ito (HMI), and in whom cytogenetic analysis revealed mosaicism for an unbalanced translocation. His karyotype is 45, XY,-7,-15,+der(7)(7:15)t(q34:q13)/46,XY. He is therefore monosomic for 7q34 to qter and 15pter to q13 in the cells containing the translocation. The human homolog (P) of the p gene (the product of the mouse pink-eyed dilution locus) maps to 15q11q13. Loss of this locus is believed to be associated with abnormalities of pigmentation, such as the hypopigmentation seen in patients with deletions of 15q11q13, and the Prader-Willi and Angelman syndromes. Mutations within the P gene have also been associated with tyrosinase-positive (type II) oculocutaneous albinism. Using fluorescence in situ hybridization, we confirmed that our patient is deleted for one copy of a P gene probe in the cells with the unbalanced translocation, and for loci within the region critical for the Prader-Willi/Angelman syndromes. Although hypomelanosis of Ito is a heterogeneous disorder, we postulate that, in our case and potentially in others, this phenotype may result directly from the loss of specific pigmentation genes.

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Section: Discussionmentioning

confidence: 95%

Section: Discussionmentioning

confidence: 99%

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

et al. 1995

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“…We are aware of 62 individuals with pigmentary dysplasias chromosomally analyzed since 1985, including the 9 individuals in the present series [Flannery et al, 1985;Fujimoto el al., 1985;Ishikawa et al, 1985;Miller and Parker, 1985;Rott et al, 1986;Turleau et al, 1986;Wertelecki et al, 1986;Happle, 1987;Glover et al, 1989;Cantu et al, 1989;Thomas et al, 1989;Sybert et al, 1990;Ritter et al, 1990;Chitayat et al, 1990;Muran0 et al, 1991;Wulfsberg et al, 19911. They included 37 chromosomally abnormal and 25 chromosomally normal individuals.…”

Section: Discussionmentioning

confidence: 99%

Pigmentary dysplasias and chromosomal mosaicism: Report of 9 cases

et al. 1992

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Chromosomes were studied in 9 individuals with pigmentary dysplasias of the skin and other abnormalities. Of the 9 individuals, 5 were chromosomal mosaics in both blood lymphocytes and skin fibroblasts (46,XY/47,XY, + 13;46,XX/47,XX, + 14;46,XY/47,XY, + 18;46,XX/47,XX, + 18;46, XX/47,XX, + mar), while the other 4 individuals were chromosomally normal in both tissues studied. The pigmentary dysplasias involved hypo- or hyperpigmented patches/flecks or lines/whorls. The latter ran along Blachko lines on the back, abdomen and the limbs. These patterns varied not only between individuals but also between different regions of an individual. The possibility of chimerism was studied but ruled out (1/32 to 1/256) in 7 individuals, using chromosomal heteromorphisms in the patients and their parents as markers.

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“…Carcinomatous changes of the skin may occur in adult life [ Rook and Whimster, 1949; Sexton, 19541 and osteogenic sarcoma has been reported in two patients [Tokunaga et al, 1976; Starr et al., 19851. Pigmentary changes in the skin are one of the major clues to the presence of somatic mosaicism [Thomas et al, 1986;Turleau et al, 1986; Donnai et al, 19861. We report on a boy with Rothmund-Thomson syndrome in whom clonal lines of aneuploid cells were demonstrated.…”

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confidence: 99%

Clonal lines of aneuploid cells in Rothmund‐Thomson syndrome

Kaloustian¹,

McGill²,

Vekemans³

et al. 1990

Am. J. Med. Genet.

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We report on a 21-month-old white boy with the Rothmund-Thomson syndrome. The karyotype on fibroblasts from an area of skin with poikiloderma showed the 46,XY,17 + der(17),t(2;17)(q11;p13) pattern. Karyotype on fibroblasts from normal skin showed two different abnormal patterns: 47,XY, + 8 and 47,XY, + i(2q). His lymphocytes had a normal 46,XY pattern. These findings indicate in vitro abnormalities. They are explained by a degree of chromosomal instability.

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

Cited by 55 publications

References 9 publications

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

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

Pigmentary dysplasias and chromosomal mosaicism: Report of 9 cases

Clonal lines of aneuploid cells in Rothmund‐Thomson syndrome

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