A de novo chromosome 9p duplication in a female child with short stature and developmental delay

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Abstract

Chromosome 9p duplication, also known as a partial trisomy 9p, is a rare chromosome abnormality due to a duplication of the partial short arm of chromosome 9. More than 200 cases are reported in the literature. Major clinical findings include short stature, developmental delay, intellectual disability, and characteristic facial dysmorphic features. The most common origin of this syndrome is malsegregation of a parental reciprocal translocation. Only about 25 cases are reported as de novo in the literature, the rest being inherited from asymptomatic balanced carrier parents. We report an additional new case of de novo partial trisomy 9p in an 8-year-old girl, and describe her clinical manifestations and diagnostic testing results.

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Duplication 9p and their implication to phenotype

Roberta Santos Guilherme, Vera Ayres Meloni, Ana Perez … (2014)

Background Trisomy 9p is one of the most common partial trisomies found in newborns. We report the clinical features and cytogenomic findings in five patients with different chromosome rearrangements resulting in complete 9p duplication, three of them involving 9p centromere alterations. Methods The rearrangements in the patients were characterized by G-banding, SNP-array and fluorescent in situ hybridization (FISH) with different probes. Results Two patients presented de novo dicentric chromosomes: der(9;15)t(9;15)(p11.2;p13) and der(9;21)t(9;21)(p13.1;p13.1). One patient presented two concomitant rearranged chromosomes: a der(12)t(9;12)(q21.13;p13.33) and an psu i(9)(p10) which showed FISH centromeric signal smaller than in the normal chromosome 9. Besides the duplication 9p24.3p13.1, array revealed a 7.3 Mb deletion in 9q13q21.13 in this patient. The break in the psu i(9)(p10) probably occurred in the centromere resulting in a smaller centromere and with part of the 9q translocated to the distal 12p with the deletion 9q occurring during this rearrangement. Two patients, brother and sister, present 9p duplication concomitant to 18p deletion due to an inherited der(18)t(9;18)(p11.2;p11.31)mat. Conclusions The patients with trisomy 9p present a well-recognizable phenotype due to facial appearance, although the genotype-phenotype correlation can be difficult due to concomitant partial monosomy of other chromosomes. The chromosome 9 is rich in segmental duplication, especially in pericentromeric region, with high degree of sequence identity to sequences in 15p, 18p and 21p, chromosomes involved in our rearrangements. Thus, we suggest that chromosome 9 is prone to illegitimate recombination, either intrachromosomal or interchromosomal, which predisposes it to rearrangements, frequently involving pericentromeric regions.

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[4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity].

J LEJEUNE, S Carpentier, J Lafourcade … (1970)

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Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis

Stefano Stagi, Elisabetta Lapi, Salvatore Seminara … (2014)

Background Trisomy 9p is an uncommon anomaly characterised by mental retardation, head and facial abnormalities, congenital heart defects, kidney abnormalities, and skeletal malformations. Affected children may also show growth and puberty retardation with delayed bone age. Auxological and endocrinological data are lacking for this syndrome. Methods We describe three girls and one boy with 9p trisomy showing substantial growth failure, and we evaluate the main causes of their short stature. Results The target height was normal in all families, ranging from 0.1 and -1.2 standard deviation scores (SDS). The patients had a low birth-weight (from -1.2 to -2.4 SDS), birth length (from -1.1 to -3.2 SDS), and head circumference (from -0.5 to -1.6 SDS). All patients presented with substantial growth (height) retardation at the time of 9p trisomy diagnosis (from -3.0 to -3.8 SDS). The growth hormone stimulation test revealed a classic growth hormone (GH) deficiency (GHD) in patients 1, 3, and 4. In contrast, patient 2 was determined to have a GH neurosecretory dysfunction (GHNSD). The plasma concentrations of IGF-I and IGFBP-3 were low in all patients for their ages and sexes (from -2.0 to -3.4 SDS, and from -1.9 to -2.8 SDS, respectively). The auxological follow-up showed that those patients who underwent rhGH treatment exhibited a very good response to the GH therapy, whereas patients 3 and 4, whose families chose not to use rhGH treatment, did not experience any significant catch-up growth. Conclusions GH deficiency appears to be a possible feature of patients with 9p trisomy syndrome. These patients, particularly those with growth delays, should be evaluated for GH secretion.

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Journal ID (nlm-ta): SAGE Open Med Case Rep

Journal ID (iso-abbrev): SAGE Open Med Case Rep

Journal ID (publisher-id): SCO

Journal ID (hwp): spsco

Title: SAGE Open Medical Case Reports

Publisher: SAGE Publications (Sage UK: London, England )

ISSN (Electronic): 2050-313X

Publication date (Electronic): 21 March 2023

Publication date Collection: 2023

Volume: 11

Electronic Location Identifier: 2050313X231160883

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[1-2050313X231160883]Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia

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[*]Kakha Bregvadze, Department of Molecular and Medical Genetics, Tbilisi State Medical University, Vazha-Pshavela Avenue 33, Tbilisi 0186, Georgia. Email: k.bregvadze@ 123456tsmu.edu

Author information

Kakha Bregvadze https://orcid.org/0000-0002-6506-0632

Nikoloz Papiashvili https://orcid.org/0000-0001-8849-8250

Sopio Gagua https://orcid.org/0000-0003-3594-1217

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Publisher ID: 10.1177_2050313X231160883

DOI: 10.1177/2050313X231160883

PMC ID: 10031590

PubMed ID: 36968988

SO-VID: acd5196e-82b0-4d93-bd2f-a35f908237b8

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This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License ( https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page ( https://us.sagepub.com/en-us/nam/open-access-at-sage).

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Date received : 2 October 2022

Date accepted : 10 February 2023

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cover-date January-December 2023

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Keywords: trisomy 9p,de novo duplication,short stature,developmental delay,chromosomal microarray

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Keywords: trisomy 9p, de novo duplication, short stature, developmental delay, chromosomal microarray

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A de novo chromosome 9p duplication in a female child with short stature and developmental delay

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Most cited references 15

Duplication 9p and their implication to phenotype

[4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity].

Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis

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