Case Report: Partial trisomy of 15q due to inserted inverted duplication

Elçioğlu, Nursel; Fear, Claudine; Ac, Berry

doi:10.1111/j.1399-0004.1997.tb02566.x

Cited by 8 publications

(6 citation statements)

References 11 publications

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“…The second chromosome involved in the reciprocal translocation has varied; chromosomes 2, 7, 8, 11, 13, 15 (Robertsonian translocation), and 21 have been reported6). Other cases of 15q duplication have been the result of direct or inverted duplication14,15). However, in this case, there were no concomitant translocations or deletions.…”

Section: Discussionmentioning

confidence: 73%

A case of de novo duplication of 15q24-q26.3

Kim

et al. 2011

Korean J Pediatr

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Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck, malformations of the fingers and toes, scoliosis and skeletal malformations, genital abnormalities, particularly in affected males, and, in some cases, cardiac defects. The range and severity of symptoms and physical findings may vary from case to case, depending upon the length and location of the duplicated portion of chromosome 15q. Most reported cases of duplication of the long arm of chromosome 15 frequently have more than one segmental imbalance resulting from unbalanced translocations involving chromosome 15 and deletions in another chromosome, as well as other structural chromosomal abnormalities. We report a female newborn with a de novo duplication, 15q24-q26.3, showing intrauterine overgrowth, a narrow asymmetric face with down-slanting palpebral fissures, a large, prominent nose, and micrognathia, arachnodactyly, camptodactyly, congenital heart disease, hydronephrosis, and hydroureter. Chromosomal analysis showed a 46,XX,inv(9)(p12q13),dup(15)(q24q26.3). Array comparative genomic hybridization analysis revealed a gain of 42 clones on 15q24-q26.3. This case represents the only reported patient with a de novo 15q24-q26.3 duplication that did not result from an unbalanced translocation and did not have a concomitant monosomic component in Korea.

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Section: Discussionmentioning

confidence: 73%

A case of de novo duplication of 15q24-q26.3

Kim

et al. 2011

Korean J Pediatr

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“…Elcioglu (1997) [ 12 ] and Herr (1983) [ 13 ] each reported a case with a de novo interstitial duplication on 15q13.3q21.3 and 15q14q21.1 respectively. The Decipher case 260222 largely overlapped with the duplication detected in our patient.…”

Section: Discussionmentioning

confidence: 99%

“…Whereas duplications distal to 15q13 are very rare. Elcioglu (1997) described a patient with hypogonadism, skeletal anomalies, Marfan-like features, developmental delay and intellectual disability, who carried a de novo interstitial inverted duplication involving bands of 15q13.3-q21.3 [ 12 ]. Herr (1983) reported a patient with a de novo interstitial duplication of 15q14-q21.1, who presented with hypogonadism, skeletal problems, short stature, delayed bone age, global developmental delay and intellectual disability [ 13 ].…”

Section: Introductionmentioning

confidence: 99%

“…Herr (1983) reported a patient with a de novo interstitial duplication of 15q14-q21.1, who presented with hypogonadism, skeletal problems, short stature, delayed bone age, global developmental delay and intellectual disability [ 13 ]. Both of the duplications were uncovered by high-resolution G-banded cytogenetics analysis, so the precise locations and sizes of the duplications were not determined [ 12 , 13 ]. Here, we reported a de novo 6.4 Mb interstitial duplication of 15q15.3q21.1 in a 14-year-old boy with hypogonadism, short stature, global developmental delay and multiple congenital anomalies.…”

Section: Introductionmentioning

confidence: 99%

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A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability

et al. 2016

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BackgroundInterstitial duplications distal to 15q13 are very rare.Case PresentationHere, we reported a 14-year-old boy with severe short stature, delayed bone age, hypogonadism, global developmental delay and intellectual disability. His had distinctive facial features including macrocephaly, broad forehead, deep-set and widely spaced eyes, broad nose bridge, shallow philtrum and thick lips. A de novo 6.4 Mb interstitial duplication of 15q15.3q21.2 was detected by chromosomal microarray analysis. We compared our patient’s clinical phenotypes with those of several individuals with overlapping duplications and several candidate genes responsible for the phenotypes were identified as well.ConclusionThe results suggest a novel contiguous gene duplication syndrome characterized with shared features including short stature, hypogonadism, global developmental delay and other congenital anomalies.Electronic supplementary materialThe online version of this article (doi:10.1186/s13039-016-0214-3) contains supplementary material, which is available to authorized users.

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“…Herr et al [1983] reported a 12-year-old boy with a de novo interstitial duplication of 15q14q21.1, who presented with scrotal hypoplasia and micropenis, short stature, seizure disorder, distinctive facial features, kyphosis and scoliosis, global developmental delay, and intellectual disability. Elçioglu et al [1997] described a patient with hypogonadism, dysmorphic facial features, hypotonia, developmental delay, Marfan-like features and intellectual disability, who carried a de novo interstitial inverted duplication involving bands 15q13.3q21.3. Recently, Yuan et al [2016] described an interstitial duplication of 15q15.3q21.1 in a 14-year-old boy with severe short stature, delayed bone age, hypogonadism, global developmental delay, and intellectual disability.…”

Section: Discussionmentioning

confidence: 99%

Williams Syndrome and 15q Duplication: Coincidence versus Association

2016

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Williams syndrome is a multisystem disorder caused by contiguous gene deletion in 7q11.23, commonly associated with distinctive facial features, supravalvular aortic stenosis, short stature, idiopathic hypercalcemia, developmental delay, joint laxity, and a friendly personality. The clinical features of 15q11q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delay, and behavioral problems. We report a rare case of a girl with genetically confirmed Williams syndrome and coexisting 15q duplication syndrome. The patient underwent treatment for central precocious puberty and later presented with primary amenorrhea. The karyotype revealed 47,XX,+mar. FISH analysis for the marker chromosome showed partial trisomy/tetrasomy for proximal chromosome 15q (15p13q13). FISH using an ELN-specific probe demonstrated a deletion in the Williams syndrome critical region in 7q11.23. To our knowledge, a coexistence of Williams syndrome and 15q duplication syndrome has not been reported in the literature. Our patient had early pubertal development, which has been described in some patients with Williams syndrome. However, years later after discontinuing gonadotropin-releasing hormone analogue treatment, she developed primary amenorrhea.

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Case Report: Partial trisomy of 15q due to inserted inverted duplication

Cited by 8 publications

References 11 publications

A case of de novo duplication of 15q24-q26.3

A case of de novo duplication of 15q24-q26.3

A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability

Williams Syndrome and 15q Duplication: Coincidence versus Association

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