Table 1 Reported Females with Xp22;Yq11 Translocations

1

Khudr 1973 [3]

Female 46,X,t(X;Y)(p22;q11)

31

Not followed

12 yr

4 SABs; 1 daughter (G5P1041); regular menses

Short, 137 cm

FSH = 9.1mIU/ml; Normal LH & thyroid studies

Not measured

n/a

exploratory laparotomy revealed nl uterus, tubes, and cystic ovaries;

2

Van den Berghe 1977 (1) [4]

Female 46,X,t(Xp;Yq)

14

17 yr

14 yr

n/a

Short, 145 cm at 14yo; 150 cm at 17 yr

FSH = 5.8 mU/ml

Not measured

n/a

Bicornuate/slightly asymmetric with left horn less developed and filiform, fibrous tubes; nl appearing ovaries

3

Van den Berghe 1977 (2) [4]

Female 46,X,t(Xp;Yq)

37

Not followed

Unknown

G4; macerated normal looking male 8 mo; 1 full term female; 1 ?abnl male newborn (short) ; 1 nl male

Not reported

Not measured

Not measured

n/a

None reported or evaluated

4

Van den Berghe 1977 (3) [4]

Daughter of (2) 46,X, t(Xp;Yq)

2

Not followed

n/a

n/a

Short, birth 43 cm; 3rd percentile at 2 yr

Not measured

Not measured

n/a

None reported or evaluated

5

Akesson [5]

Swedish woman with 46,X,der(X),t(X;Y) (p22;ql1)

Not stated

n/a

Not given

Two affected male sons with ID & anomalies

150 cm

Not measured

Not measured

n/a

6

Johnston 1987 [7]

Female 46,X,t(X;Y)(p22;q11)

birth

7.5mo

n/a

Primordial follicles on ovarian bx

48.5 cm at 3 days old; 60.5 cm at 7.5 mo

FSH = 8.5 ng/mL at 12 days old; “Normal” at 7.5 mo

Not measured

n/a

Normal uterus by u/s and visual exam during surgery; imperforate anus, mesomelic dwarfism

7

Pfeiffer 1980 [6]

Female 46,X,t(X;Y)(p22;q11)

34

Not followed

14yo

G2; 1SAB; 1 abnl male

Short, 144.5 cm

Not measured

Not measured

n/a

Microcephaly, borderline ID

8

Agematsu 1988 [8]

Female 46,X,+der(X), t(X;Y)(p22.3q12);parents NA

28

30 yr

Unknown

Normal breasts; Apparent fertility; G1P1001; abnl son

151 cm

Not measured

Not measured

Unknown

Mildly short upper extremities; No punctate calcification by X-R

9

Al-Gazali 1990 [9]

De novo 46,X,t(X;Y)(p22;q11)

birth

8mo

n/a

Not determined

<5% at 8 mo

Not measured

Not measured

n/a

Linear skin defects with scalded appearance of upper neck & face, severe bilateral microphthalmia, left corneal opacity, syndactyly of 2nd/3rd toes of left foot, normal early developmental milestones

10

Al-Gazali 1990 [9]

De novo 46,X,t(X;Y)(p22;q11)

birth

2 yr 10mo

n/a

Not determined

<5% at 2 yr 10 mo

Not measured

Not measured

n/a

Bilateral microphthalmia, left orbital cyst, linear skin defects on face, neck, shoulder, & chest; anteriorly displaced anus; 1 cm sacral nevus, lack of sphincter control of bowel & bladder at 2 10/12 yr, problems walking long distances, otherwise normal developmental milestones

11

Kuznetzova 1994 [11]

Female 46,X,t(X;Y)(p22.3;q11)

12

14 yr

Unknown, but “normal” at 13 yr; normal breasts

n/a

Short

Normal FSH, LH, Estradiol; low Progesterone

Not measured

n/a

Hypoplastic uterus, short tubes, numerous follicles within ovaries; short neck; mild pectus excavatum;

12 to 32

Hsu 1994 [10]

25 females 46,X,+der(X),t(X;Y)(p22;q11); includes cases 1–4; 6

Unknown

Not followed

Unknown

“Proven fertility” or said to have nl ovaries in 20 of 25

17 of 22 with height info reported as short

Not measured

Not measured

Unknown

None reported or evaluated

33

Joseph 1996 (1) [13]

AA Female de novo 46,X,der(X)t(X;Y)(p22;q11)

prenatal

4 yr

n/a

n/a

Short, 71 cm (<5%) at 2 yr treated with growth hormone

At 23 mo, FSH = 3.0 mIU/ml, GnRH stimulation test normal; low GH

Not measured

n/a

Premature thelarche (T3 breasts); achieved 30% with GH at age 4

34 & 35

Joseph 1996 (2) [13]

Caucasion twin females with de novo 46,X,der(X)t(X;Y)(p22.3;q11.21)

prenatal

2 yr 10mo

n/a

n/a

Short, 81.5 cm and 81 cm at 2 yr (both <5%)

IGF-1 and IGFBP3 normal

Not measured

n/a

Dolichocephaly, Narrow flat face, downslanting palpebral fissures, & epicanthal folds

36

Joseph 1996 (3) [13]

White Female de novo 46,X,der(X)t(X;Y)(p22.3;q11)

prenatal

22mo

n/a

n/a

Short, 53.3 cm at birth and fell to 5th percentile at 22mo

IGF-1 and IGFBP3 normal

Not measured

n/a

None reported or evaluated

37

James 1998 (1) [12]

Female 46,t(X;Y)(p22.31;q11.21)

24.25

Not followed

Unknown

No evidence of ovarian failure

Short

Not reported

Not measured

n/a

Upslanting palpebral fissures, increased carrying angle, high arched palate

38

James 1998 (2) [12]

Female 46,X,t(X;Y)(p22.33;q12)

5.8

Not followed

n/a

n/a

Short

Not measured

Not measured

n/a

Convergent strabismus, edema

39

James 1998 (3) [12]

Female, mom of (2), 46,X,t(X;Y)(p22.33;q12)

48.9

Not followed

Unknown

No evidence of ovarian failure

Short

Not measured

Not measured

Unknown

Low posterior hairline, short, distal phalanges of thumbs, renal anomaly, schizoid disorder

40

James 1998(4) [12]

Female 46,X,der(X)t(X;Y)(p22.3;q11.2)

Unknown

Not followed

Unknown

n/a

Short

Not measured

Not measured

Unknown

Microphthalmia, linear skin defect

41

Guichet 1997 [17]

Female with de novo 46,X,t(X;Y)(p22.33;q11.23)

20

23 yr

14 yr

Unknown and stated that breasts developed after estrogen and progesterone treatment

Short, 146 cm

Not measured

Not measured

n/a

Madelung deformity; Small hands with moderate camptodactyly of 2-5th digits of hands; short feet with shortening of all toes and moderate syndactyly 2-5th toes; needed speech therapy

42

Calabrese 1999 [15]

Female with 46,X,der(X)t(X;Y)(p22.3;q11.21)

34

NA

NA

Ascertained through a son with LWD

150 cm

Not measured

Not measured

n/a

Bowing of radius & bilateral subluxation of distal ulna (Dx with Leri-Weill dyschondrosteosis)

43

Frints 2001 [16]

Female with 46,X,der(X)t(X;Y)(p22.3;q11.21)

Reported when son 1yo, mother “young”

Not followed

Unknown

G6; 3 male SBs, 2 healthy daughters, 1 abnormal term male

Normal, 161.3 cm (not short)

Not measured

Not measured

n/a

height 25-50%

44

Speevak 2001 [2]

Female with de novo 46,X,der(X)t(X;Y)(p22.3;q11.2)

prenatal

3 ¾ yr

n/a

n/a

Short, 50 cm at 6 weeks, below 3rd percentile at 3 ¾ years

Not measured

Not measured

n/a

None reported or evaluated

45

Bukvic 2010 (1) [14]

Female with 46,X,der(X),t(X;Y)(p22;q12)

20 m

Not followed

n/a

n/a

Short, 77 cm

Not measured

Not measured

n/a

Brachycephaly, mesomelia, mild developmental delay (IQ = 83), global motor delay, major linguistic deficits, mild facial dysmorphic features

46

Bukvic 2010 (2) [14]

Female with 46,X,der(X),t(X;Y)(p22;q12), mother of Bukvic case 1 (#42)

27

Not followed

Unknown

G6; 1 abnl male, 1 abnl female, 4 SABs within 10 weeks

159 cm

Not measured

Not measured

n/a

Mesomelia; Madelung deformity; normal IQ

47

Chen 2012 [18]

Female de novo with 46,X,der(X)t(X;Y)(p22.31;q11.221)

prenatal- 17 weeks

Termination of pregnancy 21 weeks

Unknown

n/a

25 cm at 21 weeks

Not measured

Not measured

n/a

Fetal demise, Shortening of humerus and femur

48

Palka-Bayard-de-Volo 2012 [20]

Female de novo with 46,X,der(X)t(X;Y)(p22;q11)

11y9mo

Not followed

n/a

n/a

Short, 44 cm at birth, −3.78 SD at eval (<5%)

Normal thyroid, IGF-1, & celiac studies; normal brain MRI

Not measured

n/a

Facial dysmorphism (hypertelorism, epicanthus, short philtrim, and simple external ear; ASD, psychomotor delay, major language impairment, mild ID (IQ = 70)

49

Cheng 2013 (1) [19]

Female with 46,X,der(X)t(X;Y)(p22;q11.2)

Unknown

Not followed

Unknown

G1, P1; abnormal male

150 cm

Not measured

Not measured

n/a

None reported or evaluated

50

Cheng 2013 (2) [19]

Female with 46,X,der(X)t(X;Y)(p22;q11.2)

Unknown

Not followed

“Normal”

2y hx infertility due to tubal disease; successful IVF; 2 previous TABs

Short, 1.51 m

Normal FSH, LH, Prolactin, 17-OH Preg, estradiol, & progesterone (values not provided)

Not measured

n/a

HSG showed blocked tubes; no uterine abnl reported