A girl with duplication 9q34 syndrome

Gawlik-Kuklinska, Katarzyna; Iliszko, Mariola; Woźniak, Agnieszka; Dębiec‐Rychter, Maria; Kardaś, Iwona; Wierzba, Jolanta; Limon, Janusz

doi:10.1002/ajmg.a.31847

Cited by 22 publications

(22 citation statements)

References 12 publications

(11 reference statements)

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“…A 9q34 duplication syndrome (9q34 DS) has been reported [10], involving both interstitial [11][12][13][14] and terminal [1,10,[15][16][17][18][19][20][21][22][23][24][25][26][27][28][29] duplications, with different sizes. The associated manifestations include initial poor feeding and thriving, hypotonia, DD, mostly affecting speech and language, ID, craniofacial dysmorphisms and other musculoskeletal anomalies.…”

Section: Introductionmentioning

confidence: 99%

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression

et al. 2019

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Both copy number losses and gains occur within subtelomeric 9q34 region without common breakpoints. The microdeletions cause Kleefstra syndrome (KS), whose responsible gene is EHMT1. A 9q34 duplication syndrome (9q34 DS) had been reported in literature, but it has never been characterized by a detailed molecular analysis of the gene content and endpoints. To the best of our knowledge, we report on the first patient carrying the smallest 9q34.3 duplication containing EHMT1 as the only relevant gene. We compared him to 21 reported patients described here as carrying 9q34.3 duplications encompassing the entire gene and extending within ~3 Mb. By surveying

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Section: Introductionmentioning

confidence: 99%

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression

et al. 2019

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“…Reported cases presented with a variety of clinical features depending on the size of the duplication and the presence of other chromosomal abnormalities [Allderdice et al, 1983;Hodou et al, 1987;Spinner et al, 1993;Gawlik-Kuklinska et al, 2007;Youngs et al, 2010]. Our patients had a 9q34.1-qter duplication and partial 13p monosomy due to a translocation between 9q34.1 and 13pter in their healthy mother.…”

Section: Discussionmentioning

confidence: 76%

“…The following (131.7 Mb) in both patients (lower panels of A and B), which indicated that the size of the duplication was approximately 8.5 Mb according to NCBI human genome build 36.3. features were common to both patients in these reports: hypotonia, intellectual disability, developmental delay, characteristic head and facial features associated with dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, long nose, prominent chin, microstomia, microretrognathia, and characteristic features of the extremities, including long thin fingers and toes and camptodactyly (Table I). Gawlik-Kuklinska et al [2007] concluded a 7. duplicated region in their patient was critical for the phenotypes they observed (Fig. 4).…”

Section: Discussionmentioning

confidence: 99%

“…The patient exhibited autistic features, hyperactivity, and attention deficit disorder in addition to the features associated with 9q34 duplications reported previously. Gawlik-Kuklinska et al [2007] reported the case of a 17-year-old girl with an interstitial 7.4 Mb duplication of 9q34.1-q34.3 determined by array CGH analysis and compared the clinical features of the patient with those of previous cases. This patient exhibited the features common to patients with 9q34 duplications and three additional phenotypes of food-seeking behavior, obesity, and secondary amenorrhea.…”

Section: Introductionmentioning

confidence: 99%

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Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1‐qter)

Mizuno

Fukushi

Kimura

et al. 2011

American J of Med Genetics Pt A

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We report herein on two female siblings exhibiting mild intellectual disability, hypotonia in infancy, postnatal growth retardation, characteristic appearance of the face, fingers, and toes. Their healthy mother had a translocation between 9q34.1 and the 13pter. FISH and array CGH analysis demonstrated that the two children had an additional 8.5 Mb segment of the 9q34.1-qter at 13pter. The clinical features of the present cases were similar to those of previously reported 9q34 duplication cases; however, the present cases did not exhibit other abnormal behaviors, such as autistic features or attention deficit disorders, those are reportedly associated with 9q34 duplications. A 3.0 Mb region (9q34.1-q34.3) within 9q34 duplication in our patients are overlapped with duplication region of previously reported cases and is proposed to be critical for the presentation of several phenotypes associated with 9q34 duplications.

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“…Patients with distal 9q duplication are described to have facial dysmorphism that included dolichocephaly, facial asymmetry, deep-set eyes, and micrognathia (Gawlik-Kuklinska et al, 2007). Patients with distal 9q duplication are described to have facial dysmorphism that included dolichocephaly, facial asymmetry, deep-set eyes, and micrognathia (Gawlik-Kuklinska et al, 2007).…”

Section: Discussionmentioning

confidence: 99%

Vocal cord paralysis in association with 9q34 duplication

Gadancheva

Casey²,

Russell³

et al. 2014

Clinical Dysmorphology

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Micrognathia Prominent ears Truncal hypotonia Stridor Vocal cord paralysis Eczema Short clinical summaryThe proband was a male born at 40 + 6 weeks of gestation after an uneventful pregnancy. His birth weight was 4100 g (75th centile), his length was 53 cm (75th centile) and his head circumference was measured to be 35.8 cm (50th centile). He was the third child of healthy, nonconsanguineous Irish parents. The family history was unremarkable.On day 2, he presented with a continuous stridor and he was referred for ear, nose and throat (ENT) review. Flexible laryngoscopy performed at the age of 3 days revealed bilateral vocal cord paralysis (VCP). On admission he was assessed by a neurologist who felt he had significant head lag and truncal hypotonia. A number of dysmorphic features were noted including long digits, micrognathia and a small phallus. He had cortisol levels checked on two occasions (because of a small phallus) and these were both low (40 and 90 nmol/l, respectively). However, adrenocorticotropic hormone and luteinizingreleasing hormone stimulation testing was normal and on review the phallus size was felt to be within normal limits. He was referred for a genetic review at the age of 6 months. The physical examination showed only prominent ears and eczema (Fig. 1). He was otherwise nondysmorphic. His growth parameters were appropriate for his age. His hypotonia had improved although mild delay in his gross motor skills was noted.At 9 months his delay in gross motor skills was more obvious, he still was not able to sit unsupported. Review by the ENT team noted improvement of the vocal cords. Despite the VCP the baby's airway remained satisfactory and an airway intervention such as tracheostomy was not needed.At the age of 11 months he was babbling and he had about six to seven words. He was able to hold a spoon and feed himself. He did not crawl and did not pull himself up to stand. An examination at 21 months of age showed complete recovery of the VCP. At 2 years of age, his growth parameters were as follows: weight 13.2 kg (50-75th centile), occipital frontal head circumference 50 cm (50th centile) and height 92 cm (91st centile). An MRI brain scan showed an arachnoid cyst at the inferior of left cerebellopontine angle with marginal displacement of adjacent cerebellum and brainstem. His echocardiogram was normal.

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A girl with duplication 9q34 syndrome

Cited by 22 publications

References 12 publications

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression

Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1‐qter)

Vocal cord paralysis in association with 9q34 duplication

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