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Table 1 46,XY DSD-associated deletions identified by molecular cytogenetic analyses

From: Submicroscopic copy-number variations associated with 46,XY disorders of sex development

  Case/family Patient Size of deletion Locus Affected DSD-causative genes Gonadal phenotype External genitalia Additional clinical features Method Inheritance Reference
a) Deletions encompassing known 46,XY DSD-causative genes            
  Case 1   74 kb 2p16.3 LHCGR Testes with rete testis, epididymic structures, residual adrenal structures Ambiguous genitalia N.D. aCGH De novo Richard et al. [8]
  Case 2   8.5 Mb 9p24.1-p24.3 DMRT1 Streak gonads with ovarian ducts Female MR, schizophrenia aCGH N.D. Igarashi et al. [9]
  Case 3   10.6 Mb 9p23-p24.3 DMRT1 PGD with dysgerminoma Clitoromegary Mild MR aCGH N.E. Ledig et al. [10]
  Case 4   9.7 Mb 9p23-p24.3 DMRT1 GD N.D. Hydrops, facial dysmorphism, limb and kidney abnormalities aCGH De novo Ledig et al. [10]
  Case 5   821.6 kb 9p24.3 DMRT1 CGD Female None aCGH N.E. Ledig et al. [10]
  Case 6   103.2 kb 9p24.3 DMRT1 CGD Female None aCGH N.E. Ledig et al. [10]
  Case 7   9.7 Mb/duplication (26 Mb) 9p23-p24.3/9p13.1-p23 DMRT1 GD N.D. None Targeted aCGH De novo Tannour-Louet et al. [11]
  Case 8   6.7 Mb 9p24.1-pter DMRT1 GD N.D. None Targeted aCGH De novo Tannour-Louet et al. [11]
  Case 9   0.26 Mb 9p24.3 DMRT1 CGD N.D. None Targeted aCGH N.D. Tannour-Louet et al. [11]
  Case 10   0.20 Mb 9p24.3 DMRT1 GD N.D. None Targeted aCGH N.E. Tannour-Louet et al. [11]
  Case 11   0.24 Mb 9q33.3 NR5A1 (SF1) Abnormal germ cells, no Leydig cells Ambiguous genitalia N.D. aCGH Maternal Harrison et al. [12]
  Case 12   3.1 to 4.8 kb 9q33.3 NR5A1 (SF1) Leydig cell hyperplasia, scarce germ cells, carcinoma in situ Female without uterus, clitoromegaly N.D. Custom MLPA N.D. Barbaro et al. [13]
  Case 13   0.96 Mb 9q33.3 NR5A1 (SF1) N.D. Clitoromegaly, shallow vaginal entrance Ptosis aCGH De novo van Silfhout et al. 2009 [14]
  Case 14   1.54 Mb 9q33.3 NR5A1 (SF1) N.E. Female Mild MR, minor dysmorphisms aCGH De novo Brandt et al. [15]
  Case 15   3.07 Mb 9q33.3-q34.11 NR5A1 (SF1) Ovotestis Clitoromegaly Genitopatellar syndrome aCGH N.D. Schlaubitz et al. [16]
  Case 16   10 Mb 11p12-p14.1 WT1 N.E. Female WAGR syndromea aCGH De novo Le Caignec et al. [17]
  Case 17   18.0 Mb 2q31.1-q32.1 HOXD cluster N.D. Severe micropenis, hypospadias Short stature, MR, multiple anomalies aCGH N.D. Igarashi et al. [9]
  Case 18   503.2 kb Yq11.223 AZFb-c region CGD Female None aCGH N.D. Ledig et al. [10]
b) Deletions in the upstream region of known 46,XY DSD-causative genes            
  Case 19   1.193 Mb 17q24.2-q24.3 Upstream of SOX9 CGD Female Cleft palate, short stature SNP array N.D. White et al. [18]
  Case 20   3.3 Mb 17q24.2-q24.3 Upstream of SOX9 CGD Female Acampomelic campomelic dysplasia, kyphoscoliosis aCGH N.D. Ledig et al. [10]
  Family 1 Proband 240 kb 17q24.3 Upstream of SOX9 Small testis (right), streak gonad (left) Asymmetric external genitalia, urogenital sinus with a phallus None MLPA/aCGH Maternal Benko et al. [19]
  Family 1 Cousin 240 kb 17q24.3 Upstream of SOX9 Streak gonad with gonadoblastoma (right), ovary (left) Female None MLPA/aCGH Maternal Benko et al. [19]
  Case 21   236.3 kb 17q24.3 Upstream of SOX9 Streak gonad (right), gonadal tumor (left) Female None MLPA/aCGH Maternal Kim et al. [20]
  Family 2 Proband 65.4 kb 17q24.3 Upstream of SOX9 Dysgenic testisb Ambiguous genitalia None MLPA/aCGH Maternal Kim et al. [20]
  Family 2 Sibling 65.4 kb 17q24.3 Upstream of SOX9 Dysgerminoma (right), streak gonad with a gonadoblastoma (left) Female None MLPA/aCGH Maternal Kim et al. [20]
  Family 3 Proband 136 kb 17q24.3 Upstream of SOX9 Dysgenic gonad with a gonadoblastoma Female N.D. MLPA/aCGH Maternal Kim et al. [20]
  Family 3 Maternal relative 136 kb 17q24.3 Upstream of SOX9 Ovarian dysgerminoma Female N.D. MLPA/aCGH Maternal Kim et al. [20]
  Family 4 Proband 576.9 kb 17q24.3 Upstream of SOX9 CGD Female None MLPA/aCGH Maternal Kim et al. [20]
  Family 4 Sibling 576.9 kb 17q24.3 Upstream of SOX9 CGD Female None MLPA/aCGH Maternal Kim et al. [20]
  Case 22   35 kb 8p23.1 Upstream of GATA4 CGD Female Adrenal hypoplasia congenita SNP array N.D. White et al. [18]
  Case 23   0.22 Mb 8p23.1 Upstream of GATA4 PGD Ambiguous genitalia N.D. aCGH Maternal Harrison et al. [12]
  Case 24   257 kb Xp21.2 Upstream of NR0B1 (DAX1) Testis-like (right), streak gonad (left) Female None aCGH Maternal Smyk et al. [21]
  1. DSD, disorders of sex development; PGD, partial gonadal dysgenesis; CGD, complete gonadal dysgenesis; GD, gonadal dysgenesis of unknown severity; N.E., not examined; N.D., not described; MR, mental retardation; aCGH, array-based comparative genomic hybridization; MLPA, multiplex ligation-dependent probe amplification. aWilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome. bDysgenic testis with remnants of ducti deferentes and rete testis and with primitive seminiferous tubules.