Chromosome 9p Deletion Syndrome

Last update 08 May 2025

Basic Info

Synonyms

9p deletion chromosome syndrome, 9p deletion syndrome, 9p monosomy

+ [18]

Introduction

A rare chromosomal anomaly with characteristics of psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.

Clinical Trials associated with Chromosome 9p Deletion Syndrome

NCT04586400

/ RecruitingNot ApplicableIIT

Genotype-Phenotype Correlation in Patients With Chromosome 9 P Minus Syndrome

Patients with deletion of chromosome 9 P are rare (
200 in the medical literature) and have a diverse set of phenotypic characteristics. We propose using state of the art genome sequencing methods to define the location and size of the deleted portion of chromosome 9 P as well as the genetic background in affected patients (whole genome sequencing) and correlate the genes in the deleted portion of chromosome 9 P with specific phenotypic characteristics of each patient. Enrolled participants will be asked to complete a detailed questionnaire, complete a medical release form, and provide a biospecimen sample.

Start Date27 Jun 2017

Sponsor / Collaborator

Washington University School of Medicine

100 Clinical Results associated with Chromosome 9p Deletion Syndrome

100 Translational Medicine associated with Chromosome 9p Deletion Syndrome

0 Patents (Medical) associated with Chromosome 9p Deletion Syndrome

182

Literatures (Medical) associated with Chromosome 9p Deletion Syndrome

01 Dec 2024·Molecular Biology Reports

New candidate region for mirror hand movements: two patients with terminal 9p deletion and 20p duplication

Article

Author: Ozyavuz Cubuk, Pelin

The 9p deletion syndrome, which was defined in a detailed way in the previous studies, was characterized by various clinical features such as psychomotor retardation, dysmorphic features and genital anomalies. In contrast to 9p deletion syndrome, 20p duplication was rarely reported in the literature with only a few case reports. Regarding the combination of 9p deletion syndrome and 20p duplication, we found that it was reported in only four patients. In the current study, we aimed to investigate a rare chromosomal rearrangement, partial monosomy 9p and trisomy 20p which was observed in two patients with mirror hand movements. The mirror hand movements was influenced by the combination of genetic and environmental factors. While some cases have been associated with mutations in the DCC, NTN1, RAD51, and DNAL4, there were many cases where the genetic basis of mirror hand movements remained unexplained. There was no alteration detected in genes that were previously known as a cause of mirror hand movement in our patients. This new finding could potentially be attributed to the dosage effect of genes within the 9p deletion or 20p duplication regions or to the genes disrupted within the breakpoint region. Future research focusing on the genes within this genomic locus may hold the potential to uncover novel etiologic reasons for mirror hand movements.

01 Sep 2024·European Journal of Human Genetics

Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome

Article

Author: Tate, Victoria ; Akinwe, Titilope ; Couteranis, Sophia ; Easterlin, Dawn ; Sams, Eleanor I ; Turner, Tychele N ; Starosta, Rodrigo Tzovenos ; Valle, Kostandin ; Milbrandt, Jeffrey ; Dickson, Patricia ; Slaugh, Rachel ; Jensen, Nathaniel ; Hou, Ying-Chen Claire ; Cole, F Sessions

Using a new analytic method ("unique non-overlapping region" (UNOR) analysis), we characterized the genotypes and phenotypes of a large cohort of individuals diagnosed with chromosome 9p deletion syndrome (9PMS) and defined critical genomic regions. We extracted phenotypic information from 48 individuals with 9PMS from medical records and used a guided interview with caregivers to clarify ambiguities. Using high-resolution whole-genome sequencing for breakpoint definition, we aligned deletions and drew virtual breakpoints to obtain UNORs associated with phenotypic characteristics. We next extracted genotype and phenotype data for 57 individuals identified from a systematic review of the 9PMS literature and analyzed these as above. Common phenotypic features included developmental delay/intellectual disability, dysmorphic features, hypotonia, genital defects in XY individuals, psychiatric diagnoses, chronic constipation, atopic disease, vision problems, autism spectrum disorder, gastroesophageal reflux disease, trigonocephaly, congenital heart disease, and neonatal hypoglycemia. Our approach confirmed previous literature reports of an association of FREM1 with trigonocephaly and suggested a possible modifier element for this phenotype. In conclusion, the UNOR approach delineated phenotypic characteristics for 9PMS and confirmed the critical role of FREM1 and a possible long-distance regulatory element in pathogenesis of trigonocephaly that will need to be replicated in future studies.

01 Mar 2023·Journal of Intellectual Disability ResearchQ3 · MEDICINE

A distinct cognitive profile in individuals with 3q29 deletion syndrome

Q3 · MEDICINE

Article

Author: Murphy, M. ; Mulle, J. G. ; Saulnier, C. ; White, S. P. ; Walker, E. ; Cubells, J. ; Burrell, L. ; Klaiman, C.

AbstractBackground3q29 deletion syndrome is associated with mild to moderate intellectual disability as well as comorbid psychopathology such as ADHD, anxiety, ASD and schizophrenia. A greater understanding of specific profiles that could increase risk for psychopathology is necessary in order to best understand and support individuals with 3q29 deletion syndrome. The goal of this study was to thus carefully outline the strengths and weaknesses of these individuals. A second goal was to ask whether the cognitive impact of the deletion predicted psychopathology in other domains.MethodsWe systematically evaluated cognitive ability, adaptive behaviour and psychopathology in 32 individuals with the canonical 3q29 deletion using gold‐standard instruments and a standardised phenotyping protocol.ResultsMean full scale IQ was 73 (range 40–99). Verbal subtest score (mean 80, range 31–106) was slightly higher and had a greater range than non‐verbal subtest score (mean 75, range 53–98). Spatial ability was evaluated in a subset (n = 24) and was lower than verbal and non‐verbal ability (mean 71, range 34–108). There was an average 14‐point difference between verbal and non‐verbal subset scores; 60% of the time the verbal subset score was higher than the non‐verbal subset score. Study subjects with a verbal ability subtest score lower than the non‐verbal subtest score were four times more likely to have a diagnosis of intellectual disability (suggestive, P value 0.07). The age at which a child first spoke two‐word phrases was strongly associated with measures of verbal ability (P value 2.56e‐07). Cognitive ability was correlated with adaptive behaviour measures (correlation 0.42, P value 0.02). However, although group means found equivalent scores, there was, on average, a 10‐point gap between these skills (range −33 to 33), in either direction, in about 50% of the sample, suggesting that cognitive measures only partially inform adaptive ability. Cognitive ability scores did not have any significant relationship to cumulative burden of psychopathology nor to individual neurodevelopmental or psychiatric diagnoses.ConclusionsIndividuals with 3q29 deletion syndrome have a complex pattern of cognitive disability. Two‐thirds of individuals with the deletion will exhibit significant strength in verbal ability; this may mask deficits in non‐verbal reasoning, leading to an overestimation of overall ability. Deficits in verbal ability may be the driver of intellectual disability diagnosis. Cognitive ability is not a strong indicator of other neurodevelopmental or psychiatric impairment; thus, individuals with 3q29 deletion syndrome who exhibit IQ scores within the normal range should receive all recommended behavioural evaluations.

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Chromosome 9p Deletion Syndrome

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