Neonatal detection of 5p13.2 duplication and delineation of the phenotype

Romero, Mª Carmen Carrascosa; Hoyo, Rosa García; Calvente, María; Cano, María Baquero; Castillo, Llanos González; Suela, Javier

doi:10.1002/ajmg.a.35237

Cited by 6 publications

(12 citation statements)

References 11 publications

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“…When comparing our family to other published reports, we see consistent findings in the areas of developmental delay, abnormal behaviors, high/narrow palate, ear abnormalities, and high body weight (Table 1) [Carrascosa Romero et al, 2012;Novara et al, 2013;Yan et al, 2009]. The additional congenital anomalies seen in individual II.4 are most likely due to a different etiology and not related to the 5p13.2 duplication.…”

Section: Discussionsupporting

confidence: 83%

“…In addition, all previous reports of small duplications in this region have been tandem de novo duplications [Carrascosa Romero et al, 2012;Fig. 2.…”

Section: Discussionmentioning

confidence: 93%

“…These duplications range in size from 0.25 Mb to 1.07 Mb; however, all contain at least a portion of the NIPBL gene (MIM:608667). Of note, while inherited duplications were observed with larger regions, each of the seven reported cases of 5p13.2 microduplication is a de novo direct duplication [Carrascosa Romero et al, 2012;Novara et al, 2013;Yan et al, 2009].…”

Section: Introductionmentioning

confidence: 93%

“…The DECIPHER database includes two cases with w520e530 kb 5p13.2 gains that both display autistic features and ocular dysmorphism (264548 and 270011) [Firth et al, 2009]. In addition, publications with more extensive phenotypic descriptions detail a milder phenotype consisting of developmental delay and dysmorphic facies similar to those seen in the larger duplication cases [Carrascosa Romero et al, 2012;Novara et al, 2013;Yan et al, 2009]. In addition, other abnormalities have been variably reported.…”

Section: Introductionmentioning

confidence: 96%

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Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5)

Walters-Sen¹,

Windemuth²,

Angione³

et al. 2015

European Journal of Medical Genetics

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Section: Discussionsupporting

confidence: 83%

“…In addition, all previous reports of small duplications in this region have been tandem de novo duplications [Carrascosa Romero et al, 2012;Fig. 2.…”

Section: Discussionmentioning

confidence: 93%

Section: Introductionmentioning

confidence: 93%

Section: Introductionmentioning

confidence: 96%

See 2 more Smart Citations

Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5)

Walters-Sen¹,

Windemuth²,

Angione³

et al. 2015

European Journal of Medical Genetics

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“…This critical region was further supported by reports of patients with trisomy 5p phenotype and 5p10p13 rearrangements [Lorda-Sánchez et al, 1997;Avansino et al, 1999]. In addition, 5p13 microduplication syndrome (OMIM 613174) was recently described mainly featuring developmental delay and learning disability as well as behavioral problems and facial dysmorphism [Yan et al, 2009;Oexle et al, 2011;Carrascosa Romero et al, 2012;Novara et al, 2013;Lucarelli et al, 2017]. The patient herein described is a 17-year-old girl with a mosaicism of r(5)(p13.2q12.1) showing distinct dysmorphism, obesity, and behavioral abnormalities.…”

Section: Discussionsupporting

confidence: 56%

A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype

Camerota

Pitzianti²,

Postorivo

et al. 2017

Cytogenet Genome Res

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A 17-year-old girl presented with a distinct phenotype mainly featuring craniofacial dysmorphism, including a disproportioned large, round, elongated face; hypertelorism; deep-set eyes with short palpebral fissures; obesity (BMI 37), and a neuropsychiatric disorder with high-functioning autism. Postnatal conventional cytogenetic analyses from peripheral blood revealed a mosaic small supernumerary marker chromosome (sSMC) with a mos 47,XX,+mar[7]/46,XX[43] karyotype. By cenM-FISH technique, the sSMC was identified as a ring derivative of chromosome 5. Metaphase FISH analysis with a set of dedicated probes defined its origin from the pericentromeric region of chromosome 5, including the NIPBL gene at 5p13.2. Such sSMCs, exceedingly rare in the literature, underlie proximal trisomy 5p. In order to delineate a core phenotype of proximal trisomy 5p, we compared our patient's features with those of 6 patients found in the literature with similar der(5) chromosomes. Furthermore, a dozen individuals with 5p13 (micro)duplication syndrome was compared and discussed. We identified highly distinctive craniofacial dysmorphism, obesity, and intellectual disability and/or autism spectrum disorder as typical features of proximal 5p trisomy. In the critical region (band 5p13), the NIPBL gene is likely to be a major determinant of the neurobehavioral phenotype, and its presence at the sSMC level may be relevant to predict clinical outcome.

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5p13 microduplication in a malformed fetus and his unaffected father

Ghaderi‐Sohi¹,

Gholami²,

Najafi³

et al. 2022

American J of Med Genetics Pt A

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The 5p13 microduplication syndrome is a contiguous gene syndrome characterized by developmental delay intellectual disability, hypotonia, unusual facies with marked variability, mild limb anomalies, and in some cases brain malformations. The duplication ranges in size from 0.25 to 1.08 Mb and encompasses five genes (NIPBL, SLC1A3, CPLANE1, NUP155, and WDR70), of which NIPBL has been suggested to be the main dose sensitive gene. All patients with duplication of the complete NIPBL gene reported thus far have been de novo. Here, we report a 25‐week‐old male fetus with hypertelorism, wide and depressed nasal bridge, depressed nasal tip, low‐set ears, clenched hands, flexion contracture of elbows, knees, and left wrist, and bilateral clubfeet, bowing and shortening of long bones and brain malformation of dorsal part of callosal body. The fetus had a 667 kb gain at 5p13.2 encompassing SLC1A3, NIPBL and exons 22–52 of CPLANE1. The microduplication was inherited from the healthy father, in whom no indication for mosaicism was detected. The family demonstrates that incomplete penetrance of 5p13 microduplication syndrome may occur which is important in genetic counseling of families with this entity.

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Neonatal detection of 5p13.2 duplication and delineation of the phenotype

Cited by 6 publications

References 11 publications

Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5)

Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5)

A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype

5p13 microduplication in a malformed fetus and his unaffected father

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