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Table 1 Clinical features of patients with similar duplications reported in the DECIPHER databasea

From: NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report

Patient NO

Sex

Chromosome

Size

Inheritance

Gene number

Phenotype

258546

46XY

X

73.22 kb

From an unaffected mother

2

Autism Spectrum Disorder

151958561-152031784

268469

46XY

8

273.31 kb

From a normal parent

1

Obesity

Low anterior hairline

Intellectual disability

13745710-14028750

X

283.04 kb

From a normal parent

11

151897058-152170367

251730

46XX

X

1.33 Mb

De novo

45

Bulbous nose

Short palm

Muscular hypotonia

151901372-153232466

288269

46XX

X

63.38 kb

Unknown

1

Global developmental delay

122322494-1223858575

X

609.21 kb

Unknown

18

151492204-152101413

290161

46XY

1

89.38 kb

Unknown

1

Hypoplastic male external genitalia

Obesity

225217624-225307001

16

609.48 kb

Unknown

32

29586128-30195608

X

160.02 kb

Unknown

3

151958995-152119014

249396

46XY

X

11.55 Mb

De novo

122

Low-set ears

Hypertelorism

Cryptorchidism

Micrognathia

Muscular hypotonia

Intellectual disability

Prenatal short stature

140664743-152216545

  1. aThis study makes use of data generated by the DECIPHER [34] community. A full list of centres who contributed to the generation of the data is available from http://decipher.sanger.ac.uk and via email from decipher@sanger.ac.uk. Funding for the project was provided by the Wellcome Trust. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources. Firth, H.V. et al. (2009). Am.J.Hum.Genet 84, 524–533 (Doi:dx.doi.org/10/1016/j.ajhg.2009.03.010)