A Psychiatric‐cytogenetic Study of a Female Patient With 45/46/47 Chromosomes and Sex Chromosomes Xo/Xx/XXX

Abstract

The present study with a psychiatric-cytogenetic investigation of a 67-yearold woman with a chromosome mosaic of 45/46/47 chromosomes and sex chromosomes XO/xx/XXX is part of a more comprehensive study of intelligence, personality and mental disorders in patients with different chromosome abnormalities. Such studies may add to our knowledge of the genetic influence of specific chromosomes on personality, intelligence and mental disorders. Patients with chromosome mosaics 45/47, XOIXXX and 45/46/47, X O l X X l X X Xyacobs et al. (1960) described a 42-year-old female patient with 45/47 chromosomes and sex chromosomes XO/xxX. Her father was 30 and her mother 32 when she was born, and she was number five of six siblings. She had never menstruated, and she had no breast development, she had comparatively broad shoulders and an android pelvis. The authors mentioned that her attitudes were feminine, and that she was of low normal intelligence. The external genitalia were underdeveloped with the exception of the clitoris. The labia majora were small, and the labia minora vestigal. She measured 156 cm. and had pigmented naevi on her face and neck, but no other stigmata of Turner's syndrome. Vagina was absent, and no uterus was palpable.Grumbach & Morishima (1961) described a 13-year-old girl with 45/46/47 chromosomes and sex chromosomes X0RoI;IxXX. She was short of stature and sexually infantile, but she had no webbing of the neck. She was described as being of average intelligence. Hayward & Cameron (1961) studied a 10-year-old girl with 45/46/47 chromosomes and sex chromosomes XO/xx/ XXX. At 7 her I.Q. was 64. She was short and slim with bird-like features.There was a wide separation of the nipples and syndactyly of the middle three toes of both feet. The genitalia were normal for a prepubertal girl, and

Fertility in 47,XXX and 45,X patients.

“…Patients with a 45,X cell line A review of the literature reveals reports of pregnancies in 5 patients with a 45,X karyotype (Bahner et al, 1960;Nakashima and Robinson, 1971;Grace et al, 1973;Groll and Cooper, 1976;Philip and Sele, 1976), 7 who were 45,X/46,XX (Kava and Klinger, 1968;Bomers-Marres, 1966;Predescu et al, 1969;Bishun et al, 1969;Mackay et al, 1971;Siegelman, 1972;Lieber and Berger, 1973), 4 who were 45,X/ 46,XX/47,XXX (Briggs et al, 1963;de Toni et al, 1965;Armendares et al, 1967;Nielsen and Thomsen, 1968;Giraud, 1970;Hsu et al, 1972;Kim et al, 1975). The outcome of the pregnancy in these patients is set out in Tables 3, 4, 5, and 6 from which it may be seen that 54 pregnancies have occurred resulting in 16 miscarriages, 1 termination, 12 abnormal children, 3 children who were stillborn without sufficient details to Table 7.…”

Depression in Turner Syndrome: A Systematic Review

“…Regarding symptom severity, two of these studies (Money & Mittenthal, 1970;Nielsen et al, 1977) reported an average severity of depressive illness, while the remaining three were not able to comment on severity (Bender et al, 1995;Nielsen & Stradiot, 1987;Sabbath et al, 1961). The remaining nine articles (26% of the surveyed literature) are case reports or case series that relied only on expert opinion to make the determination of depression (Quality of Data Level 4), thus by design they do not have a control group or present data that are comparable to other populations (Christodorescu, Collino, Zellingher, & Tăutu, 1970;Dickens, 1970;Fishbain & Vilasuso, 1981;Larocca, 1985;Nielsen, 1970;Nielsen & Thomsen, 1968;Panzer & Tandon, 1991;Pitts & Guze, 1963;Shea & Wolfman, 2017). Table 2 summarizes the studies discussed above, categorized by method of depression evaluation and presence/ absence of control group.…”

Psychiatrische Komorbidität beim Ullrich-Turner-Syndrom

“…Eine aktuelle Kasuistik von Backes et al [21] beschreibt erstmalig den Fall einer 28jährigen Turner-Frau mit einer schizoaffektiven Störung, wobei deutliche schizomanische Symptome mit Größenwahn und akustischen Halluzinationen bei dieser Patientin beschrieben wurden. Interessanterweise bestätigt sich hierbei (ähnlich wie bei unserem Fall) der frühe von Nielsen und Thomson [22,23] beschriebene Eindruck, dass bei UTS-Patientinen neben der x-chromosomalen Belastung eine evtl. auch zusätzliche oder daraus resultierende genetisch bedingte Vulnerabilität für psychiatrische Erkrankungen v. a. in Form einer milden psychotischen Symptomatik (die spontan auch remittieren kann, bzw.…”