Interstitial deletion 3p associated with t(3p−;18q+) translocation

Kogame, Keiji; Kudo, Hiroto

doi:10.1007/bf01907824

Cited by 20 publications

(15 citation statements)

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“…Growth retardation, psychomotor delay (with significant speech defect) and dysmorphic facial features are the most generally observed congenital abnormalities. However, these patients may also present heart and kidney defects, cleft lip/palate and brain anomalies [Kogame and Kudo, 1979;Sichong et al, 1981;Neri et al, 1984;Hertz et al, 1988;Naritomi et al, 1988;Crispino et al, 1995;Wie czorek et al, 1997;Pfeiffer et al, 1998;Petek et al, 2003;Lalli et al, 2007;Schwarzbraun et al, 2007; https://decipher.sanger.ac.uk/application/]. Our patient and the previously reported cases share growth retardation, neurodevelopmental delay (with speech delay), dysmorphic features and brain anomalies ( table 1 ).…”

Section: Discussionmentioning

confidence: 99%

Characterization of a 5.8-Mb Interstitial Deletion of Chromosome 3p in a Girl with 46,XX,inv(7)dn Karyotype and Phenotypic Abnormalities

Morales¹,

Mademont-Soler²,

Armengol

et al. 2009

Cytogenet Genome Res

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Interstitial deletions of the short arm of chromosome 3 are rare, and a specific clinical phenotype has not been defined. We report the first isolated cryptic proximal interstitial 3p deletion, del(3)(p12.3p13), assessed by array-based comparative genomic hybridization in a girl with an inversion of chromosome 7, whose phenotype includes neurodevelopmental delay, growth retardation, dysmorphic facial features, hypophysis hypoplasia, gastroesophageal reflux, clinodactyly, preauricular appendix, and myopia. Her features are similar to those observed in the previously reported cases of proximal 3p deletions overlapping with our imbalance, indicating that her clinical manifestations are likely to be due to the deletion. As our patient’s imbalance is the first non-cytogenetically visible proximal interstitial 3p deletion uncomplicated by other imbalances, its characterization has allowed us to narrow the minimal deletion interval associated with growth retardation and neurodevelopmental delay to the 3p12.3–p13 region. Among the genes found in this region, ROBO1, ROBO2, PDZRN3 and CNTN3 might play a role in the neurodevelopmental delay of the patient. This study provides additional evidence that cryptic imbalances anywhere along the genome can be found in patients with phenotypic abnormalities and a balanced chromosome rearrangement.

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Section: Discussionmentioning

confidence: 99%

Characterization of a 5.8-Mb Interstitial Deletion of Chromosome 3p in a Girl with 46,XX,inv(7)dn Karyotype and Phenotypic Abnormalities

Morales¹,

Mademont-Soler²,

Armengol

et al. 2009

Cytogenet Genome Res

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“…With this case, the number of reported cases with interstitial deletion of 3p14 amounts to seven [Kogame and Kudo, 1979;Wyandt et al, 1980;Mitter et al, 1984;Short et al, 1986;Karimi-Nejad et al, 1990;Wieczorek et al, 1997]; two of these cases could not be investigated for phenotype because they were aborted fetuses [Mitter et al, 1984;Short et al, 1986]. As the pattern of anomalis in the remaining five cases (including ours) is not very striking, it is still too early to define a pattern of clinical findings characteristic of interstitial deletion of 3p14.…”

Section: Discussionmentioning

confidence: 88%

“…The associated malformations seem to be variable to a high degree; present in two patients were pulmonary stenosis, choanal atresia, and absence of the gallbladder. The following malformations were found in individual patients: hypoplasia of larynx, trachea, and bronchi, and sacral vertebral anomalies in the proposita of this report; hydrocephalus [Kogame and Kudo, 1979], submucous cleft palate, extra ribs, and posteriorly placed anus and clubfoot [Wyandt et al, 1980]; tetralogy of Fallot with pulmonic stenosis, intestinal malrotation, Meckel diverticulum [Short et al, 1986], absent olfactory tracts, choanal atresia, VSD, absent gallbladder, bicornuate uterus, horseshoe kidneys [Mitter et al, 1984], microphthalmia and kidney malformations [Karimi-Nejad et al, 1990]; and hypoplasia of the corpus callosum, absence of the septum pellucidum, coloboma of the irises, choanal atresia, pulmonary stenosis, atrial and ventricular septal defect, and absence of the gallbladder [Wieczorek et al, 1997].…”

Section: Discussionmentioning

confidence: 89%

“…Interstitial deletion of 3p14 and possibly of adjacent bands has been reported so far in six patients including two prenatally detected and aborted fetuses [Mitter et al, 1984;Short et al, 1986] and four liveborn infants, one of whom had a de novo translocation between chromosomes 3 and 18 [Kogame and Kudo, 1979], whereas the others all had de novo deletions [Wyandt et al, 1980;Karimi-Nejad et al, 1990;Wieczorek et al, 1997]. A common clinical picture is not yet evident from these cases.…”

Section: Introductionmentioning

confidence: 88%

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A 5-year-old girl with interstitial deletion of 3p14: Clinical, psychologic, cytogenetic, and molecular studies

et al. 1998

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An interstitial deletion of segment 3p14 (breakpoints 3p21.1 and 3p13) was found in a 5-year-old short, microcephalic, and mentally retarded girl with a pattern of anomalies comprising a wide forehead, short up-slanting palpebral fissures, small nose and ears, hypoplasia of larynx, trachea, and bronchi, clino- and camptodactyly of little fingers, and sacral vertebral fusion. Determination of microsatellites mapping to the deleted segment demonstrated that the deletion had occurred in the paternal germ line. This is the seventh patient with a deletion of 3p14, and comparison with the six previously reported cases does not yet allow definition of a specific pattern of minor and major anomalies.

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“…Early studies of cytogenetically visible deletions of proximal 3p described patients with a wide range of phenotypes. An initial report from 1979 identified a patient with a 3; 18 translocation plus deletion of the 3p13p21 region, who lacked notable anatomic malformations [Kogame and Kudo, 1979]. A subsequent report in 1980 characterized a patient with short stature, microcephaly, microphthalmia, craniofacial dysmorphia, and other congenital malformations with a 3p13p21.1 deletion resulting from a paternal balanced paracentric insertion [Wyandt et al, 1980].…”

mentioning

confidence: 99%

Interstitial Chromosome 3p13p14 Deletions: An Update and Review

Hajek

Saitta

2018

Mol Syndromol

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Deletions of proximal chromosome 3p13p14 are infrequent chromosomal alterations. Variable sizes and breakpoints have been reported in patients with a wide range of phenotypes that are evolving as additional cases are reported. The routine use of high-density chromosomal microarrays (CMA) has allowed the identification of many more cases of this disorder and clinical phenotyping shows evidence for an emerging profile among patients with overlapping deletions of 3p13p14. Here, we review the currently reported cases, their phenotypes and where available, the genomic intervals delineated by CMA. Surprisingly, we found that a significant number of proximal chromosome 3p deletions involve structural rearrangements, especially insertions, that have been identified in balanced parental chromosome complements. This region is historically known as a common human chromosomal fragile site, although an underlying genomic mechanism related to its architecture has not been identified. We conclude that identification of an interstitial 3p deletion in a proband by CMA should prompt consideration of further structural chromosomal evaluation using more traditional cytogenetic techniques. While the variability in breakpoints does not suggest a unifying underlying mechanism for these alterations, identification of the haploinsufficient genes in each patient's deletion interval and their developmental roles can guide genotype-phenotype correlations and impact clinical management.

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Interstitial deletion 3p associated with t(3p−;18q+) translocation

Cited by 20 publications

References 16 publications

Characterization of a 5.8-Mb Interstitial Deletion of Chromosome 3p in a Girl with 46,XX,inv(7)dn Karyotype and Phenotypic Abnormalities

Characterization of a 5.8-Mb Interstitial Deletion of Chromosome 3p in a Girl with 46,XX,inv(7)dn Karyotype and Phenotypic Abnormalities

A 5-year-old girl with interstitial deletion of 3p14: Clinical, psychologic, cytogenetic, and molecular studies

Interstitial Chromosome 3p13p14 Deletions: An Update and Review

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