A Girl with 15q Overgrowth Syndrome and dup(15)(q24q26.3) that Included Telomeric Sequences

Gutiérrez-Franco, María de los Ángeles; Madariaga-Campos, María de la Luz; Vásquez-Velásquez, Ana I.; Matute, Esmeralda; Guevara-Yañez, Roberto; Rivera, Horacio

doi:10.3343/kjlm.2010.30.3.318

Cited by 10 publications

(8 citation statements)

References 27 publications

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“…The phenotype-genotype correlations observed in these cases resulted in the delineation of the 15q overgrowth syndrome, which is caused by the increased dosage of the genes that are present between 15q25-q26.3. The findings of overgrowth have reliably been associated with the extra copy of the IGF1R (insulin-like growth factor 1 receptor) gene located at 15q26.3 [23]. However, in our patient, no findings suggestive of overgrowth were observed.…”

Section: Discussioncontrasting

confidence: 45%

“…Since the first report of 15q22 → qter duplication by Fujimoto et al 1974 [22], at least 71 other cases of similar or smaller distal 15q imbalances have been described [23]. The phenotype-genotype correlations observed in these cases resulted in the delineation of the 15q overgrowth syndrome, which is caused by the increased dosage of the genes that are present between 15q25-q26.3.…”

Section: Discussionmentioning

confidence: 99%

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Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter

Sheth¹,

Andrieux

Tewari³

et al. 2013

Mol Cytogenet

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Exact breakpoint determination by oligonucleotide array-CGH has improved the analysis of genotype-phenotype correlations in cases with chromosome aberrations allowing a more accurate definition of relevant genes, particularly their isolated or combined impact on the phenotype in an unbalanced state. Chromosomal imbalances have been identified as one of the major causes of mental retardation and/or malformation syndromes and they are observed in ~2-5% of the cases. Here we report a female child born to non-consanguineous parents and having multiple congenital anomalies such as atrial septal defect and multiple ventricular septal defects, convergent strabismus, micropthalmia, seizures and mental retardation, with her head circumference and stature normal for her age. Cytogenetic study suggested 46,XX,add(8)(p23). Further analysis by array-CGH using 44K oligonucleotide probe confirmed deletion on 8p23.3p23.1 of 7.1 Mb and duplication involving 15q23q26.3 of 30 Mb size leading to 46,XX,der(8)t(8;15)(p23.3;q23)pat.arr 8p23.3p23.1(191,530-7,303,237)x1,15q23q26.3(72,338,961-102,35,195)x3. The unique phenotypic presentation in our case may have resulted from either loss or gain of a series of contiguous genes which may have resulted in a direct phenotypic effect and/or caused a genetic regulatory disturbance. Double segmental aberrations may have conferred phenotypic variability, as in our case, making it difficult to predict the characteristics that evolved as a result of the global gene imbalance, caused by the concomitant deletion and duplication.

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Section: Discussioncontrasting

confidence: 45%

Section: Discussionmentioning

confidence: 99%

Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter

Sheth¹,

Andrieux

Tewari³

et al. 2013

Mol Cytogenet

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“…a deletion) in addition to the duplication. The comparison of the clinical findings between patients with pure and impure 15q duplication did not show major phenotypic differences with the exception for the life-span that seems lower in patients with impure15q duplication ( 1 , 5 ).…”

Section: Discussionmentioning

confidence: 81%

“…To the best of our knowledge, up to now, 96 patients with chromosome 15q duplication have been reported in literature. Among these, 28 patients showed distal 15q tetrasomy due to a mosaicism or to a neocentromer marker chromosome (NMC) ( 2 , 3 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 ) and the others had 15q distal trisomy ( 1 , 2 , 3 , 4 , 5 , 8 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 ). The duplication of 15q chromosome can be classified in pure and impure forms, based on the presence of another chromosome abnormality (e.g.…”

Section: Discussionmentioning

confidence: 99%

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Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function

Cannarella

Mattina

Condorelli

et al. 2017

Endocrine Connections

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Insulin-like growth factor 1 receptor (IGF1R), mapping on the 15q26.3 chromosome, is required for normal embryonic and postnatal growth. The aim of the present study was to evaluate the IGF1R gene expression and function in three unrelated patients with chromosome 15 structural abnormalities. We report two male patients with the smallest 15q26.3 chromosome duplication described so far, and a female patient with ring chromosome 15 syndrome. Patient one, with a 568 kb pure duplication, had overgrowth, developmental delay, mental and psychomotor retardation, obesity, cryptorchidism, borderline low testis volume, severe oligoasthenoteratozoospermia and gynecomastia. We found a 1.8-fold increase in the IGF1R mRNA and a 1.3-fold increase in the IGF1R protein expression (P < 0.05). Patient two, with a 650 kb impure duplication, showed overgrowth, developmental delay, mild mental retardation, precocious puberty, low testicular volume and severe oligoasthenoteratozoospermia. The IGF1R mRNA and protein expression was similar to that of the control. Patient three, with a 46,XX r(15) (p10q26.2) karyotype, displayed intrauterine growth retardation, developmental delay, mental and psychomotor retardation. We found a <0.5-fold decrease in the IGF1R mRNA expression and an undetectable IGF1R activity. After reviewing the previously 96 published cases of chromosome 15q duplication, we found that neurological disorders, congenital cardiac defects, typical facial traits and gonadal abnormalities are the prominent features in patients with chromosome 15q duplication. Interestingly, patients with 15q deletion syndrome display similar features. We speculate that both the increased and decreased IGF1R gene expression may play a role in the etiology of neurological and gonadal disorders.

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Detection of mutually exclusive mosaicism in a girl with genotype‐phenotype discrepancies

Luo

Mulchandani

Dubbs

et al. 2015

American J of Med Genetics Pt A

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Discordance between clinical phenotype and genotype has multiple causes, including mosaicism. Phenotypes can be modified due to tissue distribution, or the presence of multiple abnormal cell lines with different genomic contributions. We have studied a 20-month-old female whose main phenotypes were failure to thrive, developmental delay, and patchy skin pigmentation. Initial chromosome and SNP microarray analysis of her blood revealed a non-mosaic ~24 Mb duplication of 15q25.1q26.3 resulting from the unbalanced translocation of terminal 15q to the short arm of chromosome 15. The most common feature associated with distal trisomy 15q is prenatal and postnatal overgrowth, which was not consistent with this patient’s phenotype. The phenotypic discordance, in combination with the patchy skin pigmentation, suggested the presence of mosaicism. Further analysis of skin biopsies from both hyper- and hypopigmented regions confirmed the presence of an additional cell line with the short arm of chromosome X deleted and replaced by the entire long arm of chromosome 15. The Xp deletion, consistent with a variant Turner Syndrome diagnosis, better explained the patient’s phenotype. Parental studies revealed that the alterations in both cell lines were de novo and the duplicated distal 15q and the deleted Xp were from different parental origins, suggesting a mitotic event. The possible mechanism for the occurrence of two mutually exclusive structural rearrangements with both involving the long arm of chromosome 15 is discussed.

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A Girl with 15q Overgrowth Syndrome and dup(15)(q24q26.3) that Included Telomeric Sequences

Cited by 10 publications

References 27 publications

Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter

Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter

Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function

Detection of mutually exclusive mosaicism in a girl with genotype‐phenotype discrepancies

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