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Table 2 Genotype–phenotype correlations in reported patients with mosaic 45,X/46,X,dic(Y)(q12)

From: A mosaic karyotype of 45,X/46,X,psu idic(Y)(q12) in a ten-year-old boy: integrating high-throughput sequencing with cytogenetic technique for precise diagnosis and genetic counselling

Reference

Karyotype

Phenotype

Sex

Age (y)

Martin DesGroseilliers et al. [12], 2006

46,X,idic(Y)(q12)[226].ish idic(Y)(q12)(wcpY + ,SRY +  + ,DYZ3 + +)/45,X[21]/47,X,idic(Y)(q12) × 2[3].ish idic(Y)(q12) × 2(wcpY + ,SRY +  + ,DYZ3 + +) × 2

Dysmorphic features, mild language delay, small uterus

F

4

Willis, M. J. H et al. [13], 2006

45,X [14],/46,X, psu dic

(Y)(q12)[5], (SRY + +)

normal

M

Infant

James Pascual et al.[14], 2009

45,X[8]/46,X,idic(Y)(q12)[12]

Ambiguous genitalia

M

Infant

Martin DesGroseilliers et al. [15], 2002

47,X,idic(Y)(q12) × 2[123]/45,X[9]

global psychomotor delay atrioseptal defect, radio-ulnar synostosis, bilateral fifth finger clinodactyly, premature closure of the anterior fontanel

M

2.3

Melanie Beaulieu Bergeron et al.[7], 2011

46,X,idic(Y)(q12)[138]/45,X[36]/46,X,del(Y)(q12)[1]

pure gonadal dysgenesis

F

unknown

Present study

45,X[8]/46,X,idic(Y)(q12)[32]

Short stature, mircopenis, hypospadias and cryptorchidism

M

8