Unusual phenotype in partial trisomy 14

Lemire, Edmond G.; Cardwell, Sharon

doi:10.1002/(sici)1096-8628(19991203)87:4<294::aid-ajmg2>3.0.co;2-s

Cited by 13 publications

(6 citation statements)

References 14 publications

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“…Our patient shares similarities of the swirly areas of hyperpigmentation with mosaic of trisomy 14 and with Turner syndrome, in addition to a global developmental delayed found in most of the cases mentioned above (Fig. 1a, b) 2,[5][6][7][8] . However, this patient does not have a cardiac condition, abdominal, limbs or rib deformities, or behavioral problems such as impulsivity, obstinacy, and compulsive skin picking ( Table 1).…”

Section: Discussionsupporting

confidence: 78%

A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)

et al. 2020

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A 1-year-old baby with phylloid-type pigmentary mosaicism, hypotonia, ambiguous genitalia, and a positive screening test for congenital adrenal hyperplasia was referred. Previous sonograph, cytogenetics, and metabolic profile were inconclusive, therefore we performed an additional karyotype and a molecular cytogenetics studies. A mosaic karyotype 45,X/46,X,der(Y)t(Y;14) was characterized in peripheral blood. Congenital adrenal hyperplasia genes were sequenced and the results were negative. The ambiguous genitalia was the result of the special gonosomal mosaicism. The low level of trisomy 14 led to minor physical characteristics and mild mental retardation; also, Turner syndrome features can be expected rather than severe trisomy 14 stigmata.

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Section: Discussionsupporting

confidence: 78%

A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)

et al. 2020

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“…Partial trisomy 14q usually gives rise to a milder dysmorphic syndrome consistent with our patient's presentation. One case reported a trisomic segment similar to ours [Laurent et al, 1973] and four additional cases reported slightly larger trisomic regions (14pter → 14q13) [Fryns et al, 1974; Coco and Penchaszadeh, 1977; Abeliovich et al, 1982; Lemire and Cardwell, 1999]. All of these cases presented with a relatively mild phenotype.…”

Section: Discussionsupporting

confidence: 61%

Prenatal diagnosis and molecular cytogenetics in a case of partial trisomy 14 and monosomy 21

et al. 2001

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We report an unbalanced translocation involving chromosomes 14 and 21 which presented as fetal ventriculomegaly at 33 weeks gestation. Second trimester ultrasound had indicated normal fetal anatomy, including normal intracranial structures. Parental karyotypes showed a paternal balanced translocation: 46,XY,t(14;21)(q12;q21). The unbalanced translocation in the fetus resulted in trisomy for 14pter-->q12 and monosomy for 21pter-->q21. Postnatal examination showed that the male infant had a cleft palate, but no cleft lip, and mild dysmorphic features. Postnatal MRI revealed bilateral and symmetric dilatation of the occipital horns, atria, and temporal horns of the lateral ventricles. Molecular cytogenetic techniques were used to delineate further the breakpoint on chromosome 14 to a site distal of the D14S1071 locus and the breakpoint on chromosome 21 to a region between D21S1918 and D21S1902. More precise definitions of chromosomal breakpoints in such clinical cases should provide more accurate prognosis for individuals with unbalanced karyotypes and assist in the identification of putative developmentally important genes.

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“…The phenotype of proximal trisomy 14 comprises developmental and growth retardation, microcephaly, blepharophimosis, low‐set ears, flat nasal bridge, cleft palate, microphthalmia, and recurrent respiratory infections (Table I) [for review: Lemire and Cardwell, 1999; Schinzel, 2001; George et al, 2002]. In the case of tetrasomy of proximal 14q, only two cases have been reported: In the prenatally diagnosed tetrasomy 14q case [George et al, 2002], the ultrasound abnormalities and the aberrant karyotype led to therapeutic abortion at 23 weeks of gestation.…”

Section: Discussionmentioning

confidence: 99%

Mosaic tetrasomy 14pter‐q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q

Eggermann

Gamerdinger

Bosse

et al. 2005

American J of Med Genetics Pt A

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Tetrasomy of proximal 14q is an extremely rare condition and has never been reported to be associated with survival. We here report on the first case of mosaic tetrasomy of 14pter-q13 due to a de-novo supernumerary pseudoisodicentric chromosome in a 2-year-old boy with multiple dysmorphisms and malformations. The marker was detectable in nearly 25% of lymphocytes as well as in cells from buccal mucosa. Detailed fluorescence in situ hybridization (FISH) analyses allowed the characterization of the marker to entirely consist of proximal 14q material and to be symmetric. The pattern of clinical features in our patient only slightly correspond to that of patients with trisomy of proximal 14q, but further cases are needed to define whether tetrasomy of proximal 14q is a separate entity.

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Unusual phenotype in partial trisomy 14

Cited by 13 publications

References 14 publications

A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)

A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)

Prenatal diagnosis and molecular cytogenetics in a case of partial trisomy 14 and monosomy 21

Mosaic tetrasomy 14pter‐q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q

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