Terminal Deletion of Chromosome 15q26.1: Case Report and Brief Literature Review

Bhakta, Kushal Y.; Marlin, Sarah J; Shen, Joseph; Fernandes, Caraciolo J.

doi:10.1038/sj.jp.7211301

Cited by 31 publications

(25 citation statements)

References 16 publications

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“…Typical clinical features include growth retardation, developmental delay, microcephaly and cardiac defects. Our observations are in line with these and other previously reported clinical features such as craniofacial and limb deformities [3,4,5,6,7,11,12,13,14,15,16,17,18,19,20,21,22]. In our cohort, case 5 had congenital subglottic stenosis requiring tracheostomy, a new feature not described before.…”

Section: Discussionsupporting

confidence: 80%

Recombinant Human Growth Hormone Therapy in Children with Chromosome 15q26 Deletion

Ho¹,

Clayton

Vasudevan

et al. 2015

Horm Res Paediatr

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Background: The insulin-like growth factor 1 receptor (IGF IR) gene is located on chromosome 15q26.3. Heterozygous 15q26 deletions involving the IGFIR gene are rare, resulting in intrauterine and postnatal growth retardation, developmental delay and microcephaly. Limited evidence exists on the effect of growth hormone (GH) therapy in these cases. Methods: We report a series of cases with 15q26 deletions, including response to GH treatment. Results: Seven children (2 males) presented with short stature [median height standard deviation score (SDS) of -4.8 (range -3.0 to -5.6)]. GH was started at a median age of 5 years (range 1.8 to 12.4) for a median duration of 5.8 years (range 1.0 to 12.4). Median height SDS increased by +0.6 (range 0.1 to 1.0), +1.3 (range 0.1 to 2.4) and +1.4 (range 0.8 to 3.3) after 1 (n = 7), 5 (n = 4) and 10 years (n = 3) of GH treatment, respectively. Four patients reached final height after 5.8 to 12.4 years of GH with a median change in height SDS of +1.1 (range 0 to 3.3). Conclusion: This study demonstrates a moderate, though variable, response to GH therapy, suggesting that GH resistance caused by heterozygous IGFIR deletions can be partially overcome by GH therapy. The first-year response was moderate, and whilst long-term treatment improved height SDS, the final adult height remained reduced. Therefore, an individual trial of GH therapy may be appropriate in these patients.

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Section: Discussionsupporting

confidence: 80%

Recombinant Human Growth Hormone Therapy in Children with Chromosome 15q26 Deletion

Ho¹,

Clayton

Vasudevan

et al. 2015

Horm Res Paediatr

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“…Since parental chromosomes are normal, we conclude that this de novo translocation may result in some material loss causing haploinsufficiency of genes in the terminal 15q region. There are only a few cases of a solely terminal 15q deletion reported to date [Siebler et al, 1995;Tonnies et al, 2001;Okubo et al, 2003;Bhakta et al, 2005;Pinson et al, 2005]. All patients, as compared by Bhakta et al [2005] and Pinson et al [2005], have striking intrauterine growth retardation with postnatal growth delay, developmental delay, and limb anomalies.…”

Section: Discussionmentioning

confidence: 93%

“…The role of IGF1R in growth development was demonstrated in transgenic animals [Baker et al, 1993]. Analysis of patients with a terminal 15q deletion with IUGR and delayed postnatal growth suggests that haploinsufficiency of the IGF1R may be the cause [ Roback et al, 1991;Siebler et al, 1995;Tonnies et al, 2001;Okubo et al, 2003;Bhakta et al, 2005;Pinson et al, 2005]. In addition, a patient with a duplicated terminal 15q, derived from a maternal pericentric inversion of chromosome 15, resulting in the three copies of the IGF1R locus showed some physical overgrowth [Okubo et al, 2003].…”

Section: Discussionmentioning

confidence: 99%

“…To the best of our knowledge, only six reports of patients with isolated 15q terminal deletion are extant [Siebler et al, 1995;Tonnies et al, 2001;Okubo et al, 2003;Bhakta et al, 2005;Pinson et al, 2005] and none is described to have satellited DNA translocation involvement. Here we report on a patient with a terminal deletion of a maternally derived chromosome 15q associated with satellite translocation resulting in the appearance of a satellited 15q in a girl with developmental delay and severe growth retardation.…”

Section: Introductionmentioning

confidence: 88%

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De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation

Rujirabanjerd

Suwannarat

Sripo

et al. 2007

American J of Med Genetics Pt A

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We report on a case of satellited 15q with subtelomeric deletion in a girl with delayed development and severe growth retardation. The patient also has a triangular face, downturned angles of the mouth, micrognathia, and minor limb malformations including mild talipes equinovarus, genu recurvatum, and increased dorsiflexion of both limbs. Cytogenetic analysis using standard GTG banding showed a female karyotype with a satellited-like structure at the distal long arm of one chromosome 15. Silver staining of the nucleolar organizing region (AgNOR) confirmed the presence of a satellite DNA translocation at the lesion. Analysis using fluorescent in situ hybridization (FISH) detected a subtelomeric deletion of the terminal 15q. Additional molecular analysis using microsatellite markers along the long arm of chromosome 15 defined a maximally deleted region at approximately 4.7 Mb. Haploinsufficiency of the IGF1R gene expression is thought to be the cause of growth delay in all 15q terminal deletion including our patient.

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“…In contrast, there are many other patients described in the literature with 15q26.1 deletions who do not have CDH but have variable phenotype presentations, including facial dysmorphisms, short neck, complex heart defects, developmental delay, failure to thrive/growth restriction, cholestatic liver disease, severe feeding issues, and kidney and spinal cord abnormalities [9][10][11]. Therefore, haploinsufficiency of this region does not show complete penetrance for CDH.…”

Section: Discussionmentioning

confidence: 87%

Congenital Diaphragmatic Hernia in a Fetus with a De novo Terminal Deletion of Chromosome 15q26.1

Ruth¹,

Starcevic²,

ML³

2012

Hereditary Genetics

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De novo terminal deletions of chromosome 15q26.1 are rare occurrences. Deletions of this region have been previously linked to congenital diaphragmatic hernia (CDH) as well as congenital malformations and developmental delay. This article presents a prenatal case of this de novo terminal deletion, detected by cytogenetic analysis and confirmed by fluorescence in situ hybridization (FISH), in a fetus with CDH and intrauterine growth restriction (IUGR). Genetic evaluation of pre-and postnatal cases of CDH should include at least a close examination of the terminal region of chromosome 15q26. As with any de novo substantial loss of genetic material, the prognosis is likely to include additional neurologic impairment and other congenital malformations in comparison to CDH patients without genomic alterations.

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Terminal Deletion of Chromosome 15q26.1: Case Report and Brief Literature Review

Abstract: Terminal deletions of chromosome 15q are rare events, with only six cases previously described. Here we describe a seventh case of a terminal deletion of the long arm of chromosome 15, with the present case exhibiting clinical features not previously described.

Cited by 31 publications

References 16 publications

Recombinant Human Growth Hormone Therapy in Children with Chromosome 15q26 Deletion

Recombinant Human Growth Hormone Therapy in Children with Chromosome 15q26 Deletion

De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation

Congenital Diaphragmatic Hernia in a Fetus with a De novo Terminal Deletion of Chromosome 15q26.1

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