Congenital Asymmetry Associated With Diploid-Triploid Mosaicism and Large Satellites

Ferrier, Pierre; Stalder, G; Bamatter, F; Ferrier, S; Bühler, Erica M.; Klein, Dagmar

doi:10.1016/s0140-6736(64)91395-9

Cited by 110 publications

(48 citation statements)

References 18 publications

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“…An association between pigmentary anomalies and chromosomal mosaicism has been reported since the 1960s [1,2]. Various mosaic pigment distributions are known, such as the lines of Blaschko, the checkerboard pattern, the phylloid pattern and the patchy pattern without midline separation [3].…”

Section: Introductionmentioning

confidence: 99%

Phylloid Pattern of Hypomelanosis Closely Related to Chromosomal Abnormalities in the 13q Detected by SNP Array Analysis

et al. 2012

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Phylloid hypomelanosis is a distinct type of pigmentary mosaicism characterized by congenital hypochromic macules resembling a floral ornament with various elements such as round or oval patches, asymmetrical macules similar to begonia leaves, or oblong lesions. It has been found to be predominantly associated with abnormalities in chromosome 13 and sometimes as-sociated with different extracutaneous abnormalities. Here, we report 2 new cases of phylloid hypomelanosis due to mosaicism involving chromosome 13. The first one is a mosaicism for a supernumerary marker belonging to chromosome 13 and the second one is the first report of phylloid hypomelanosis associated with a mosaic deletion of 13q. Because of the extremely low level of mosaicism in these 2 cases, SNP array analysis on skin fibroblasts was carried out, showing a 13q21.33-q34 duplication (71,024,411-115,103,529) and a 13q13.3-q34 (38,368,012-115,103,529) deletion. Both cases underline on the one hand the strict connection between phylloid hypomelanosis and anomalies of chromosome 13, and on the other hand the relevance of the SNP array analysis on skin fibroblasts in the detection of low-level mosaicism.

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Section: Introductionmentioning

confidence: 99%

Phylloid Pattern of Hypomelanosis Closely Related to Chromosomal Abnormalities in the 13q Detected by SNP Array Analysis

et al. 2012

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“…Rarely, however, are they found at a later stage than the usual abortion or arc they carried to term. Only 10 cases arc known to date (B ook and Santesson, 1960;Book et al, 1962;Ellis et al, 1963;Ferrier et al, 1964;Gropp et al, 1964;Bernard et a/., 1965;Edwards et al, 1967;Sacrev.eta l., 1967;Schmid and Vischer, 1967; Lejeune et al, 1967;Papiernik-Berkhauer, 1968); seven of these represent 2N/3N mosaics. Of the remaining three cases, in which only a single 3N cell-line had been detected, two were premature babies who did not survive the postnatal period (Bernard et al, 1965;Edwards et al, 1967), whereas the third one died in utero two days before the pre sumed term (Papiernik-Berkhauer, 1968).…”

Section: Introductionmentioning

confidence: 99%

Triploidy in man

Schindler¹,

Mikamo²

1970

Cytogenet Genome Res

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A triploid male infant, born after 39 weeks gestation, is described. Malformations included severe physical retardation, syndactyly, microphthalmia with coloboma, macroglossia, hypospadias, a small penis and intra-abdominal testes. A 69, XXY karyotype was consistently found in cultures of peripheral blood, skin and muscle from left and right sides. No heterochromatic X chromosome was found in buccal smears and tissue cultures, as evidenced by cytological and autoradiographic studies. A few sex-chromatin-positive cells were found in the connective tissue of the amnion and cborion. The sex-chromosome complement of triploid conceptuses among the computed early human abortions shows a distribution of 1 XXX to nearly 2 XXY, with a very low frequency of XYY triploids. Statistical evaluation of these data reveals a near equal proportion of triploids of diandric and digynic origin if equal viability for all three sex chromosome complements is assumed. Should XYY zygotes be less viable, then the excess of the XXY variety can only be explained by an important predominance of diandric triploids. In the light of experimental data in animals, the role of pre- and postovulatory overripeness of ovocytes is discussed.

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“…In diploid-triploid women (46,XX/69,XXX) genital anomalies have not been noted 5,10 . In 46,XY/ 69,XXY mixoploidy a range of genital appearances from normal male to normal female have been described 5 ' 11 .…”

Section: Journal Of Pediatric Endocrinology and Metabolismmentioning

confidence: 99%

“…Other characteristic phenotypic features are intrauterine growth retardation, asymmetry of the face and body (which may be present at birth or develop later with hemihypertrophy), cranial bone abnormalities, cleft palate, micrognathia, ocular abnormalities, low set abnormal ears, syndactyly and a simian crease 5,6,13 ' 14 . Pigmentary dysplasia with both hypopigmented and hyperpigmented lesions resembling cafe-au-lait spots have been described 6,11 . Abnormal haematological indices suggesting dyserthyropoietic anaemia are also a feature 13 ' 14 .…”

Section: Journal Of Pediatric Endocrinology and Metabolismmentioning

confidence: 99%

“…It is important to obtain a skin or gonadal karyotype as the majority of diploid/triploid individuals have a normal diploid karyotype in venous blood 6,11,14 . As individuals with diploid/triploid cell lines usually have learning difficulties an accurate diagnosis is important for counselling and prognostic purposes.…”

Section: Journal Of Pediatric Endocrinology and Metabolismmentioning

confidence: 99%

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An Unusal Case of Hermaphroditism - A 46,XX/69,XXY Chimera

Wright¹,

Wales²

2004

Journal of Pediatric Endocrinology and Metabolism

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PATIENT REPORTOur patient was the second child of unrelated Caucasian parents. An amniocentesis had been performed during an otherwise uncomplicated pregnancy because a routine 'triple test' (alphafoetoprotein, oestriol and human chorionic gonadotropin) to screen for Down's syndrome had suggested a high risk. The amniocentesis showed a 46,XX karyotype. The infant was born at term weighing 2.84 kg with a large, pale placenta which weighed 2.0 kg. The child had ambiguous genitalia with a small phallus and a urethral opening in the middle of bilateral labio-scrotal folds (Fig. 1). Gonads were palpable in the right labio-scrotal fold and in the left inguinal canal. Bilateral inguinal hernias were present. The child had dysmorphic features with micrognathia, macroglosia, microcephaly, a sloping forehead and wide simian crease. Chromosomal analysis on venous blood again showed a 46,XX karyotype. The blood film was suggestive of dyserythropoietic anaemia. Baseline hormone levels on day 6 (FSH <0.2 IU/1, LH <0.5 IU/1, testosterone 33.9 nmol/1, oestradiol 1,730 pmol/1) demonstrated very high levels of both testosterone and oestradiol suggesting the gonads were ovo-testes. The initial levels were presumed to be due to perinatal stimulation of the gonads and J

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Congenital Asymmetry Associated With Diploid-Triploid Mosaicism and Large Satellites

Cited by 110 publications

References 18 publications

Phylloid Pattern of Hypomelanosis Closely Related to Chromosomal Abnormalities in the 13q Detected by SNP Array Analysis

Phylloid Pattern of Hypomelanosis Closely Related to Chromosomal Abnormalities in the 13q Detected by SNP Array Analysis

Triploidy in man

An Unusal Case of Hermaphroditism - A 46,XX/69,XXY Chimera

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