Partial trisomy 3p syndrome

Reiss, James; Sheffield, L.J.; Sutherland, G.

doi:10.1111/j.1399-0004.1986.tb00568.x

Cited by 15 publications

(3 citation statements)

References 14 publications

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“…These findings of our case have been rarely reported, although some authors had reviewed partial trisomy 3p cases and the pattern of anomalies according to the frequency of the features1,2,4).…”

Section: Discussionmentioning

confidence: 55%

“…In our patient, the karyotyping of chromosomes showed partial duplication of the chromosome 3p and unbalanced translocation: 46,XX,der(4)t(3;4)(p21.1;p16)pat. Whether the carrier of the abnormal chromosomes is the father or the mother, however doesn't seem to be decisive in determining the clinical features1,2).…”

Section: Discussionmentioning

confidence: 99%

“…The common clinical features include early postnatal death, congenital heart defect, psychomotor retardation, hypoplastic genitalia and dysmorphic face, such as frontal bossing, temporal indentation, and hypertelorism1,2). The clinical findings associated with trisomy 3p are usually similar but not necessarily the same in all diagnosed cases1-8).…”

Section: Introductionmentioning

confidence: 99%

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A case of partial trisomy 3p syndrome with rare clinical manifestations

et al. 2012

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Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4) (p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.

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Section: Discussionmentioning

confidence: 55%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A case of partial trisomy 3p syndrome with rare clinical manifestations

et al. 2012

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Insertional translocations: Report of two new families and review of the literature

Abuelo¹,

Barsel-Bowers²,

Richardson³

et al. 1988

Am. J. Med. Genet.

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We describe two families with insertional translocations. In the first, a large family ascertained because of repeated pregnancy loss, the insertional translocation, ins(1;3)(q32;p13pter), was found to be segregating through three generations. In the second family, ascertained through a proposita with congenital malformations, multiple spontaneous abortions also occurred. The father had an insertional translocation, inv 4(p14,q21.1)ins(7,4)(q32;q21.1 q23). These cases illustrate that recurrent fetal wastage may be caused by insertional translocations and in fact may be the only clinical manifestation of this unusual type of chromosome rearrangement.

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Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent‐1 segregants

Kozma

Slavotinek

Meck

2003

American J of Med Genetics Pt A

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A subtle balanced translocation involving the terminal regions of 1q and 3p was identified in a large family by high-resolution karyotype analysis and confirmed by fluorescence in situ hybridization (FISH) analysis. In this family, segregation of a balanced t(1:3)(q42.3;p25) chromosome translocation led to two types of viable unbalanced complements. The proband inherited the derivative chromosome 3, resulting in partial trisomy of 1q and partial monosomy of 3p. A paternal uncle and cousin had the reciprocal rearrangement with a derivative of chromosome 1, resulting in partial monosomy for 1q and partial trisomy for 3p. While profound mental and physical retardation and congenital heart defects were characteristics for both rearrangements, facial dysmorphism was quite distinct for each imbalance. Individuals who had the derivative chromosome 3 had a long face, wide eyebrows, small palpebral fissures, hypertelorism, prominent glabella, a large tip of the nose, long philtrum with thin upper lip, and low set-ears. In contrast, family members with the derivative of chromosome 1 had a tall forehead with bifrontal narrowing, full and large cheeks, and large simple ears. Since the translocated segments are small and approximately equal in size in this family, it is not surprising that viability was seen in individuals with both types of adjacent-1 segregation. In this kindred, the ratio of normal to abnormal individuals born to balanced carriers is believed to be about 1:1.5. This suggests that the recurrence risk for carriers is 50%.

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Partial trisomy 3p syndrome

Cited by 15 publications

References 14 publications

A case of partial trisomy 3p syndrome with rare clinical manifestations

A case of partial trisomy 3p syndrome with rare clinical manifestations

Insertional translocations: Report of two new families and review of the literature

Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent‐1 segregants

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