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Table 1 Reported Females with Xp22;Yq11 Translocations

From: Long-term follow-up of females with unbalanced X;Y translocations—reproductive and nonreproductive consequences

No. Reference Index Case Age at dx Age at F/U Menarche Ovarian function reported (Fertility) Stature Endocrine Studies AMH Menopause Other abnormalities
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