Trisomy 22. Two new cases and delineation of the phenotype.

Penchaszadeh, Víctor B.; Coco, Roberto

doi:10.1136/jmg.12.2.193

Cited by 32 publications

(19 citation statements)

References 8 publications

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“…The availability of new techniques of chromosome identification and the increasing number of case reports have led to the delineation of trisomy 22 syndrome as a distinct nosological entity with a characteristic phenotype (Penchaszadeh and Coco, 1975). We report here a patient who showed many symptoms of this syndrome.…”

mentioning

confidence: 94%

Trisomy 22 mosaicism.

Mollica¹,

Sorge²,

Pavone³

1977

Journal of Medical Genetics

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mentioning

confidence: 94%

Trisomy 22 mosaicism.

Mollica¹,

Sorge²,

Pavone³

1977

Journal of Medical Genetics

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“…qter. Our patient did not demonstrate the features associated with partial monosomy for the distal half of 22q such as hypotonia, epicanthic folds, deep-set eyes, kyphosis, or lordosis [Warren et al, 1973;Penchaszadeh et al, 1975]. The absence of the abnormal cell line in the lymphocytes may be due to selection of normal cells over abnormal cells in rapidly dividing tissue.…”

Section: Discussionmentioning

confidence: 78%

Unusual mosaic karyotype resulting from adjacent 1 segregation of t(11;22): Importance of performing skin fibroblast karyotype in patients with unexplained multiple congenital anomalies

2002

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We report a patient with a mosaic karyotype resulting from an adjacent 1 segregation of the familial autosomal translocation (11;22). The karyotype seen in fibroblast is 46,XY,der(22)t(11;22)(q23.3;q11.2)/46,XY. No evidence of the abnormal cell line was seen in the cultures obtained from the lymphocytes. The clinical phenotype of the patient does not fit a particular pattern of partial monosomy 22 or partial trisomy 11. There are some features that have been previously reported in patients with trisomy 11q23 --> qter. The mosaic karyotype in our patient could be a result of a series of postzygotic mitotic events of a zygote carrying the der(22) chromosome. These mechanisms involve events that are well documented for several chromosomes. This case underscores the necessity of performing exhaustive cytogenetic analysis in patients with an abnormal phenotype with a family history of a chromosome rearrangement in fibroblast cells if lymphocyte analysis is normal.

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“…On the other hand, microcephaly, beaked or bulbous nose, long philtrum, and finger abnormalities were less prominent in partial trisomy 22 as compared with full trisomy 22. The present case showed most of these common features, and additionally exhibited short palpebral fissures, blepharoptosis, long and prominent philtrum, Begleiter et al, 1976;Cervenka et al, 1977;Emanuel et aL, 1976;Goodman et al, 1971;Gustavson et aL, 1972;Hirschhorn et aL, 1973;Hsu et al, 1971;Iselius and Faxelius, 1978;Lalehev et al, 1978;Mollica et aL, 1977;Penchaszadeh and Cocco, 1975;P6rez-Castillo et aL, 1975;Punnett et aL, 1973 ;Shokeir, 1978 ;Uchida et aL, 1968Uchida et aL, , 1976Vianello and Bonioli, 1975;Welter et aL, 1978. long slender fingers and unusual dermatoglyphics. The phenotype of the present case was rather consistent with the trisomy 22 syndrome.…”

Section: Discussionmentioning

confidence: 86%

“…Trisomy 22 was suspected by Uchida et al (1968), and recognized as a clinical entity by Hsu et al (1971) and Penchaszadeh and Cocco (1975).…”

Section: Introductionmentioning

confidence: 97%