Two cases with partial trisomy 9p: Molecular cytogenetic characterization and clinical follow‐up

Littooij, Annemieke S.; Hochstenbach, Ron; Sinke, Richard J.; Tintelen, Peter van; Giltay, Jacques C.

doi:10.1002/ajmg.10322

Cited by 30 publications

(21 citation statements)

References 23 publications

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“…Regarding clinical aspects of our case, it showed similar findings as that of trisomy 9p syndrome (Rethore et al 1970;Castorina et al 2000;Littooij et al 2002). However, the crowded facial features, seizures, delayed puberty, gross delay in speech and behavioural abnormality were the additional findings in the present case.…”

Section: Discussionsupporting

confidence: 86%

Trisomy 9p Syndrome in a Mentally Retarded Female Inherited from Maternal Reciprocal Translocation

Shetty¹,

Desai²,

Dave³

2006

International Journal of Human Genetics

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A rare case of trisomy 9 p syndrome resulting from maternal reciprocal translocation is reported here, in a 14-year old female child with mental and motor developmental delay. The characteristic phenotype features of this syndrome such as dysmorphic features, congenital anomalies, severe mental retardation and gross delay in speech were observed. The cytogenetic study showed 47,XX, +der (9), (9pter→9q12; Xp22.2) mat. The mother was mentally normal, and her karyotype revealed chromosomal abnormality in terms of reciprocal translocation 46, XX, t (X; 9)(p22.2→ter; q13!ter), confirming her as a carrier and thus, leading to the inheritance of trisomy 9p in this girl child.

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Section: Discussionsupporting

confidence: 86%

Trisomy 9p Syndrome in a Mentally Retarded Female Inherited from Maternal Reciprocal Translocation

Shetty¹,

Desai²,

Dave³

2006

International Journal of Human Genetics

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“…As a viability conceptus, if one of the translocated or derivative chromosomes is small, similar to our case, 3:1 segregation is more likely than the other segregation models (9,10). The living patients with tertiary trisomy are mostly reported for chromosome 9p (11,12). The distal half of the short arm of chromosome 9p (9pter-9p21), approximately the same segment as our case (9pter-9p22) (Figure 1), is responsible for the major clinical features of the syndrome; growth and mental retardation, ear anomalies, hypertelorism etc.…”

Section: Discussionmentioning

confidence: 98%

A prenatal tertiary trisomy resulting from balanced maternal 8; 9 translocation

Kayhan

Ergün

Bırı

et al. 2011

J Turkish German Gynecol Assoc

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An additional derivative chromosome 8 was found in the cytogenetic analyses of the chorionic villus biopsy specimen of a balanced reciprocal translocation carrier mother. This was a 3:1 segregation of the unbalanced product of the balanced maternal 8:9 translocation. The chromosomes of the carrier of the balanced reciprocal translocation pair with their matching homologous segments at meiosis I, a quadrivalent figure is formed and chromosomes segregate from this configuration. Increased nuchal tranaslucency was also determined on fetal sonography at the 13 rd week of gestation. The final karyotype was 47,X Y,+der(8)t(8;9)(q11.2;p22) mat, and the parents were informed about this tertiary trisomy. After genetic counseling, the parents decided to terminate the pregnancy. The presented case is a reminder of the probability of the unbalanced products of the 3:1 segregation, rather than the common 2:2 segregation. (J Turkish-German Gynecol Assoc 2011; 12: 183-5)

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“…Despite variation in size of the 9p duplications, this syndrome is characterized by typical dysmorphic features and a variable but constant psychomotor and mental retardation [Wilson et al, 1985;Smart et al, 1988;Littooij et al, 2002]. Typical characteristics include growth and mental/ developmental retardation, microbrachcephaly, deep and wide-set eyes with downslanting palpebral fissures, prominent nasal root with a bulbous nasal tip, downturned corners of the mouth, lowset ears, short fingers and toes with hypoplastic nails, and delayed bone age.…”

Section: Discussionmentioning

confidence: 99%

Array‐CGH study of partial trisomy 9p without mental retardation

Bouhjar

Hannachi

Zerelli

et al. 2011

American J of Med Genetics Pt A

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Partial trisomy 9p is one of the most common detected autosomal structural anomalies, so the phenotype-genotype correlation of this rearrangement has been well described. Despite variation in size of the 9p duplications, trisomy 9p syndrome is characterized by typical dysmorphic features and a variable but constant psychomotor and mental retardation. Previously reported phenotype genotype correlation studies proposed that the critical region for phenotype is located in 9p22. We report here on a new patient with partial trisomy 9p13.3→9pter in an 8-year-old boy with typical trisomy 9p dysmorphic features but a normal mental development. Cytogenetics investigations showed that our patient karyotype was 47,XY,+ der(22)t(9;22)(p13.q11) inherited by a 3:1 disjunction of a maternal reciprocal translocation t(9;22)(p13.q11). FISH and array CGH analysis were used to better characterize duplicated chromosomal regions and showed a large duplication of chromosome 9p13.3→9pter associated to microduplication in 22q11.1. The size of the duplications in chromosomes 9p and 22q were estimated about 33.9 and 2.67 Mb, respectively. The comparison between this case and those reported in the literature allows us to support that all syndromes show variability and that not all partial trisomies 9p are associated with intellectual disability.

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Two cases with partial trisomy 9p: Molecular cytogenetic characterization and clinical follow‐up

Cited by 30 publications

References 23 publications

Trisomy 9p Syndrome in a Mentally Retarded Female Inherited from Maternal Reciprocal Translocation

Trisomy 9p Syndrome in a Mentally Retarded Female Inherited from Maternal Reciprocal Translocation

A prenatal tertiary trisomy resulting from balanced maternal 8; 9 translocation

Array‐CGH study of partial trisomy 9p without mental retardation

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