De novo interstitial deletion in the long arm of chromosome 9: a new chromosome syndrome.

Ying, K.L.; Curry, CJ; Rajani, K B; Kassel, S H; Sparkes, Robert S.

doi:10.1136/jmg.19.1.68

Cited by 28 publications

(29 citation statements)

References 3 publications

(1 reference statement)

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“…Most of these were detected using conventional chromosome banding analysis, and to date, no clear syndrome has been identified). Seven cases have currently been reported using CMA techniques with precise breakpoints that overlap the 9q31.2q32 region . These are represented graphically in Figure and aligned against the deletion seen in our cohort, with a summary of the clinical reports available in Table .…”

Section: Discussionmentioning

confidence: 66%

“…Clinical findings included cleft lip and palate, delayed motor milestones, intellectual impairment, poor growth, dysmorphic facial features, and sensorineural hearing loss. Ying et al reported a case with a 10.3 Mb deletion in chromosome region 9q31.2q33.1 (chr9: 109711873‐120037324, converted to hg18 from hg19) as well as a heterozygous missense mutation in ANKRD11 (OMIM 611192) on chromosome 16. This patient had the features of KBG syndrome (OMIM 148050).…”

Section: Discussionmentioning

confidence: 99%

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A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature

Ramineni

Burgess

Cruickshanks

et al. 2019

Clinical Case Reports

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Key Clinical Message We report a novel 9q31.2q32 (chr9: 109195179‐113974353, hg 18) microdeletion characterized by fatigue, muscle cramps, short stature, delayed puberty, sensorineural hearing loss, and mild developmental delay. Overlapping microdeletions reported in this region also demonstrate facial dysmorphism, skeletal anomalies, cleft palate, and cardiac valvular abnormalities. In comparing these cases, we suggest critical region of chr9: 109711873‐113407621 (hg 18).

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Section: Discussionmentioning

confidence: 66%

Section: Discussionmentioning

confidence: 99%

A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature

Ramineni

Burgess

Cruickshanks

et al. 2019

Clinical Case Reports

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“…3, Table 3) (7,(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31). 3, Table 3) (7,(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31).…”

Section: Discussionunclassified

Clinical features of microdeletion 9q22.3 (pat)

Shimojima

Adachi²,

Tanaka³

et al. 2009

Clinical Genetics

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Congenital anomaly syndromes manifesting overgrowth are rare, and only a small number of recognized or defined conditions are known to be associated with overgrowth. Some of them are related to genomic imprinting as a genetic cause. We report a girl who showed pre- and postnatal overgrowth who was found to have a 2.3-Mb deletion of 9q22.32 involving PTCH1, the gene responsible for Gorlin syndrome (nevoid basal cell carcinoma syndrome), by array-comparative genomic hybridization analysis. Clinical re-evaluation according to the diagnostic criteria was performed after identification of the PTCH1 deletion, and the patient was then diagnosed as having Gorlin syndrome. Further delineation involved unusual features including cerebellar dysplasia, an ectopic meninx on her shoulder, and an intraorbital hemangioma. Overgrowth is not a common finding in Gorlin syndrome. We reviewed 23 patients reported to have a 9q22 deletion. Five patients, including our patient, had overgrowth and loss of the paternal allele.

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“…So far 37 patients have been reported as being diagnosed with 9q22 deletions that either matched clinical criteria as regards diagnosis of NBCCS or include PTCH1 within the deleted interval, not including intragenic deletions [Sekhon et al, 1982;Ying et al, 1982;Farrell et al, 1991;Robb et al, 1991;Evans et al, 1993;Kroes et al, 1994;Shimkets et al, 1996;Paoloni-Giacobino et al, 2000;L'Hermine et al, 2002;Olivieri et al, 2003;Haniffa et al, 2004;Midro et al, 2004;Boonen et al, 2005;Cajaiba et al, 2006;Chen et al, 2006;Redon et al, 2006;Fujii et al, 2007;Nowakowska et al, 2007;de Ravel et al, 2009;Musani et al, 2009;Shimojima et al, 2009;Yamamoto et al, 2009;Muller et al, 2012]. Several of the patients presented craniosynostosis, severe obstructive hydrocephalus, macrosomia, and developmental delay, which are not usually seen in NBCCS.…”

Section: Discussionmentioning

confidence: 99%

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC‐C loci

Garavelli¹,

Piemontese

Cavazza

et al. 2013

American J of Med Genetics Pt A

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Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant condition mainly characterized by the development of mandibular keratocysts which often have their onset during the second decade of life and/or multiple basal cell carcinoma (BCC) normally arising during the third decade. Cardiac and ovarian fibromas can be found. Patients with NBCCS develop the childhood brain malignancy medulloblastoma (now often called primitive neuro-ectodermal tumor [PNET]) in 5% of cases. The risk of other malignant neoplasms is not clearly increased, although lymphoma and meningioma can occur in this condition. Wilms tumor has been mentioned in the literature four times. We describe a patient with a 10.9 Mb 9q22.3 deletion spanning 9q22.2 through 9q31.1 that includes the entire codifying sequence of the gene PTCH1, with Wilms tumor, multiple neoplasms (lung, liver, mesenteric, gastric and renal leiomyomas, lung typical carcinoid tumor, adenomatoid tumor of the pleura) and a severe clinical presentation. We propose including leiomyomas among minor criteria of the NBCCS. 2894 INTRODUCTIONGorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) also known as basal cell nevus syndrome (BCNS, OMIM #109400) is an autosomal dominant condition due to haploinsufficiency of PTCH1 and mainly characterized by the development of mandibular keratocysts which often have their onset during adolescence and/or multiple basal cell carcinomas normally arising after age 20 [Hahn et al., 1996;Evans and Farndon, 2002;Gorlin, 2004;Muzio et al., 2013]. Exonic, multiexonic, and whole-gene deletions have been reported in about 6% of individuals with NBCCS [Evans and Farndon, 2002]. The studies of disease prevalence come from the UK population, where it is nearer to 1:30,827 [Evans et al., 2010]; The actual figure could be higher still, since less severe cases may not be diagnosed and Jones et al. [2011] recently reported an incidence of 1 in 19,000 births.NBCCS is clinically diagnosed in patients with one major diagnostic criterion and molecular confirmation or two major criteria or one major and two minor diagnostic criteria [Bree et al., 2011]. The major criteria are the following: (1) BCC before the age of 20 or excessive numbers of BBCs out of proportion to prior sun exposure and skin type, (2) odontogenic jaw keratocyst prior to 20 years of age, (3) palmar or plantar pitting, (4) lamellar calcification of the falx cerebri, (5) medulloblastoma typically desmoplastic, and (6) first-degree relative with NBCCS. The minor criteria are the following: (1) rib anomalies, (2) other specific skeletal malformations and radiologic changes (i.e., vertebral anomalies, kyphoscoliosis, short fourth metacarpals, postaxial polydactyly), (3) macrocephaly, (4) cleft lip/palate, (5) ovarian/ cardiac fibromas, (6) lymphomesenteric cysts, and (7) ocular anomalies including the following: strabismus, hypertelorism, congenital cataract, glaucoma, coloboma.The typical facial phenotype includes macrocephaly, frontal bossing, coarse face ...

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De novo interstitial deletion in the long arm of chromosome 9: a new chromosome syndrome.

Cited by 28 publications

References 3 publications

A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature

A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature

Clinical features of microdeletion 9q22.3 (pat)

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC‐C loci

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