Table 2 Clinical and cytogenetic findings in patients with DSD explored with aCGH (4 × 44 K)

Patient

Patient 1

Patient 2

Patient 3

Patient 4

Patient 5

Patient 6

Patient 7

Patient 8

Age

2 days

24 years

7 months

8 months and half

3 years

9 months

3 Years

1 year

Indication

Dysmorphic features

Primary amenorrhea

Growth delay

Growth delay

Dysmorphic features

polymalformative syndrome

Abnormal external genitalia

polymalformative syndrome

Consanguinity

No

Yes

Yes

No

No

No

yes

No

Sex of rearing

M

F

F

M

M

M

M

M

congenital anomalies associated

Dysmorphic features

Microcephaly

Inter-atrial communication heat defect

Mental retardation

Hypotonia, Dysmorphic features, psychomotor delay

Inter-atrial communication heat defect

Dysmorphic features

Microcephaly

Psychomotor delay

Dysmorphic features

Microcephly

Dysmorphic features microcephaly

Macrocephaly

Dysmorphic features

Microcephaly

Dysmorphic features

Inter-atrial communication heat defect

Arterial hypertension

Genitalia

External

Micropenis, hypospadias, cryptorchidism

Micropenis, palpable right testis

Female external genitalia

micropenis

micropenis

Micropenis, crytorchidism

Micropenis cryptorchidism

Micropenis

Hypospadias

Internal

NA

Absence of ovaries and uterus

Absence of uterine or ovarian structure

NA

NA

NA

NA

NA

Gonads

Testis

Testis

Gonadal agenesis

Testis in inguinal position

Testis in inguinal position

Testis in the abdomen

Testis in inguinal position

Small testis

Karyotype

46,XY,(del4)(p16.3)

46,XY

46,X,der(Y)

46,XY,r(9)

46,XY,r(9)

45,XY,rob(13;1)(q10;q10)

46,XY,der(12)[4]/46,XY[16]

46,XY

FISH (SRY gene)

46,XY,(del4)(p16.3).ish(Yp11.)(SRY × 1)

46,XY.ish(Yp11.3)(SRY × 1)

46,X,der(Y).ish(Yp11.3)(SRY × 1)

46,XY,r(9).ish(Yp11.3)(SRY × 1)

46,XY,r(9).ish(Yp11.3)(SRY × 1)

45,XY,rob(13;14).ish(Yp11.3)(SRY × 1)

46,XY,der(12)[4] /46,XY[16].ish(Yp11.3)(SRY × 1)

46,XY.ish(Yp11.3)(SRY × 1)

aCGH (4 × 44 K)

46,XY.arr[NCBI36]4p16.3(62,447_9,065,971) × 1 dn

(deletion size: 4.8 Mb)

46,XY.arr8p23[ NCBI36](7,290,597_11,665,267) × 1

( deletion size:4 Mb)

46,X,der(Y)t(X;Y)(p21.3;p11.3).arr[ NCBI36]Xp21.2(2,710,316_30,233,793)X2 dn

(duplication size:27.5 Mb)

46,XY,r(9).arr[ NCBI36]9p24-pter(601,628_1,569,467) × 1

( deletion size:1 Mb)

46,XY,r(9).arr[ NCBI36]9p22,2(601,628_7,786,728) X1

(deletion size ~ 6 Mb)

45,XY,rob(13;14).arr[ NCBI36]8p23.2(184,617_7,290,647) × 1, 8p21.2(12,627,630 _30,839,917) × 3

deletion size ~ 7 Mb)

(duplication size ~ 18 Mb)

46,XY,der(12)[4] /46,XY[16].mos [arr NCBI36]12p(179,323_30,681,410) × 3 dn

(duplication size:30 Mb)

46,XY.arr[ NCBI36]16p12.1(29,582,349_30,106,101) × 1

(Deletion size: 1 Mb)

FISH Specific loci Probes

46,XY,(del4)(p16.3).ish(4p16.3)(WHSC1 × 1)

Blue FISH:RP11-52B19

46,XY.ish(8p23) ( RP11-52B19 × 1

46,X,der(Y).ish(Xp21.2)(NR0B1 × 2)

46,X,der(Y).ish(Xp22.3)(KAL1 × 2)

46,X,der(Y).ish(WCPX × 1)(WCPY × 1)

46,XY,r(9).ish(subtel9p × 1)(subtet9q × 2)

46,XY,r(9).ish(subtel9p × 1)(subtet9q × 2)

NA

46,XY,der(12).ish(WCP12[4] /46,XY[16]

NA

Inheritance

De novo

NA

De novo

NA

De novo

De novo

De novo

NA

Initial clinical diagnosis

Wolf Hirshhorn Syndrome

46,XY GD

46,XY GD

Alfi syndrome

Alfi syndrome

46,XY DSD

Candidate gene in association with the DSD phenotype

MSX1(candidate gene)

GATA4

NR0B1

DMRT1-3

DMRT1-3

NA

NA

NA