Partial trisomy 3p syndrome

Reiss, James; Sheffield, L. J.; Sutherland, Grant R.; Goldblatt, E.

doi:10.1016/s0031-3025(16)38121-1

Cited by 7 publications

(9 citation statements)

References 9 publications

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“…Most of the clinical manifestations described in our patient are known to occur in both trisomy 3p and monosomy 13q syndromes, individually. Other phenotype manifestations are compatible with the clinical alterations related to 3p trisomy patients (Reiss et al, 1986;Chen et al, 2008;Ginocchio et al, 2008;Tan et al, 2011;Han et al, 2012), and some are related to 13q monosomy (Schinzel, 1983;Brewer et al, 1998;Brooks et al, 2006;Ballarati et al, 2007;Quélin et al, 2009), as shown in Tables 1 and 2. The partial 13q monosomy commonly produces malformations such as microcephaly, ear abnormalities, retrognathia, hypertelorism, palate fissures, hypotonia, and skeletal abnormalities, as well as psychomotor development delay and heart defects ( Table 1). The partial 3p trisomy has been known as a syndrome with multiple congenital abnormalities and intellectual deficiency, characterized by micrognathia, short neck, hypertelorism, large mouth with downturned angles, prominent philtrum, speech delay, congenital heart disease, and neuropsychomotor retardation.…”

Section: Case Reportsupporting

confidence: 62%

Case Report 3p partial trisomy and 13q partial monosomy with congenital malformations and psychomotor developmental delay

Doriqui¹,

Freitas²,

Pinho³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. We examined a girl presenting neuropsychomotor developmental delay and multiple malformations including antenatal and postnatal growth retardation, congenital heart defect, and facial dysmorphisms. Cytogenetic analysis was performed on peripheral blood lymphocytes with the GTG-banding technique, which revealed an unbalanced translocation: 46,XX,der(13)(13pter→13q34::3p24→3pter) pat. Karyotype analysis of the father demonstrated a balanced translocation, 46,XY,t(3;13)(p24;q34), indicating the inheritance of the derivative chromosome 13. The mother karyotype was normal. We suggest that most of the structural malformations seen in this patient are due to the 3p trisomy, while the neuropsychomotor alterations are a consequence of both chromosome aberrations.

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Section: Case Reportsupporting

confidence: 62%

Case Report 3p partial trisomy and 13q partial monosomy with congenital malformations and psychomotor developmental delay

Doriqui¹,

Freitas²,

Pinho³

et al. 2013

Genet. Mol. Res.

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“…The following abnormalities have also been described in partial trisomy 3p: square face. prominent cheeks, hypertelorism, brachycephaly, micrognathia and dysplastic ears (Reiss et al 1986, Cabral de Almeida et al 1989. A holoprosencephaly sequence with partial fusion of the cerebral hemispheres and absence of individual cerebral sections has been described with a varying degree of severity (Gillerot et al 1987).…”

Section: Discussionmentioning

confidence: 99%

“…Buemg reported a case of cyclopia (Buemg et al 1989). Other described malformations in partial trisomy 3p are heart defects (ASD, VSD, pulmonary stenosis) and urogenital deformities (Reiss et al 1986). Mental retardation occurred in all reported cases or could be expected on the basis of the cerebral malformations.…”

Section: Discussionmentioning

confidence: 99%

Combined partial trisomy 3p/monosomy 5p resulting in sonographic abnormalities

et al. 1997

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We report here a case of partial trisomy of the short arm of chromosome 3 combined with partial monosomy 5p due to malsegregation of a balanced maternal translocation t(3;5). The newborn demonstrated esophageal atresia and complex cerebral malformations. Conspicuous sonographic findings offering the chance of prenatal detection included polyhydramnios without visualization of the stomach, as well as a single umbilical artery. The child died 8 days postpartum.

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“…Case 1: 46,XY,t(1;3)(q43;p21) Consider a consultand who is a male heterozygote 46,XY,t(1;3)(q43;p21) with family data (after correction for ascertainment bias) x f am = 7, n f am = 37 (see, e.g., IV-16 in Reiss et al (1986)). Gardner et al (2004), summarizing data in Kozma et al (1983), report that a similar translocation, t(1;3)(q42.3;p25), has an LBR of 7/11 (Table 5-5).…”

Section: Case Studiesmentioning

confidence: 99%

Bayesian Assessment of Genetic Risk in Families with a Balanced Translocation

VanDerwerken

2015

Journal of Genetic Counseling

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An important problem from the field of genetics involves the calculation of a personalized risk estimate on behalf of a heterozygous carrier of a balanced translocation. Though phenotypically normal, the carrier may be at increased risk of having a child who is mentally and physically abnormal due to an unbalanced translocation of chromosomal segments. An accurate estimate of the probability of this event is understandably desirable. Unfortunately, translocations are almost always family-specific so there is very little data that are perfectly relevant and one has to rely heavily on general risk figures derived from studies of families with similar translocations. This makes the problem particularly well suited to Bayesian analysis, which coherently combines family-specific data and a priori knowledge. However, much of the genetics counseling literature recommends an either/or approach: if the family is large enough, use family data; else, use pooled population data. In this article, we describe how uncertainty can be significantly reduced by incorporating all available information in the context of deriving a risk estimate for a hypothetical familial translocation.

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Partial trisomy 3p syndrome

Cited by 7 publications

References 9 publications

Case Report 3p partial trisomy and 13q partial monosomy with congenital malformations and psychomotor developmental delay

Case Report 3p partial trisomy and 13q partial monosomy with congenital malformations and psychomotor developmental delay

Combined partial trisomy 3p/monosomy 5p resulting in sonographic abnormalities

Bayesian Assessment of Genetic Risk in Families with a Balanced Translocation

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