{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T18:11:05Z","timestamp":1763057465793,"version":"build-2065373602"},"reference-count":20,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1979,12]]},"abstract":"<jats:p>A very rare case of complete testicular feminisation with a 47,XXY sex chromosome complement is described. The X-chromatin is positive. The subject studied, who belongs to a family in which four other members have Morris's syndrome and have a 46,XY karyotype, is a perfect phenotypic female. The endocrine situation is unique and resembles, in part, that of subjects with Klinefelter's syndrome.<\/jats:p>","DOI":"10.1136\/jmg.16.6.480","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"480-483","source":"Crossref","is-referenced-by-count":12,"title":["A case of complete testicular feminisation and 47,XXY karyotype."],"prefix":"10.1136","volume":"16","author":[{"given":"M","family":"Gerli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Migliorini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Bocchini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Venti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Ferrarese","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Donti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Rosi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1979,12,1]]},"reference":[{"key":"ref_1","article-title":"The report of German and Vesell","volume-title":"describes Morris's syndrome and a 47, XXY karyo","author":"complement","year":"1966","unstructured":"complement. The report of German and Vesell (1966) describes Morris's syndrome and a 47,XXY karyo-"},{"key":"ref_2","article-title":"The XYY chromosome male or syndrome","volume-title":"Progress in Medical Genetics","volume":"10","author":"Borgaonkar, D.S.","year":"1972","unstructured":"Borgaonkar, D. S. (1972). The XYY chromosome male or syndrome. In Progress in Medical Genetics, Vol. 10, ed A. G. Steinberg and A. G. Bearn. Grune and Stratton, New York. Cited by Borgaonkar and Shah (1974)."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1242","DOI":"10.1016\/S0140-6736(71)91757-0","article-title":"Electrocardiogram in males with the 47, XYY karyotype","volume":"1","author":"Char, F.; Borgaonkar, D.S.","year":"1971","unstructured":"Char, F., and Borgaonkar, D. S. (1971). Electrocardiogram in males with the 47,XYY karyotype. Lancet, 1, 1242.","journal-title":"Lancet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/BF01890108","article-title":"X and Y chromatin survey among 1581 Japanese juvenile delinquents","volume":"24","author":"Nanko, S.; Saito, S.; Makino, M.","year":"1979","unstructured":"Nanko, S., Saito, S., and Makino, M. (1979). X and Y chromatin survey among 1581 Japanese juvenile delinquents. Japanese Journal of Human Genetics, 24, 21-25.","journal-title":"Japanese Journal of Human Genetics"},{"key":"ref_5","first-page":"223","article-title":"Les hommes 47, XYY","volume":"12","author":"Noel, B.; Quack, B.; Durand, Y.; Rethor6, M.","year":"1969","unstructured":"Noel, B., Quack, B., Durand, Y., and Rethor6, M. (1969). Les hommes 47,XYY. Annales de Gingtique, 12, 223-236.","journal-title":"Annales de Gingtique"},{"key":"ref_6","article-title":"type in monozygotic twins, and Bartsch-Sandhoff","author":"Gordon","year":"1976","unstructured":"type in monozygotic twins, and Bartsch-Sandhoff et al. (1976) reported a case of incomplete testicular feminisation with the same chromosome complement. Subjects with the same syndrome and mosaicism of the sex chromosomes are very rare (Uozumi et al., 1967; Gordon et al., 1969). We report the clinical, endocrine, and cytogenetic findings of a subject with a rare coexistence of Morris's syndrome and a","journal-title":"et al; reported a case of incomplete testicular feminisation with the same chromosome complement. Subjects with the same syndrome and mosaicism of the sex chromosomes are very rare (Uozumi"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1016\/S0140-6736(68)90183-9","article-title":"The electrocardiogram in males with Case report extra Y chromosomes","volume":"1","author":"Price, W.H.","year":"1968","unstructured":"Price, W. H. (1968). The electrocardiogram in males with Case report extra Y chromosomes. Lancet, 1, 1106-1108.","journal-title":"Lancet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1399-0004.1974.tb00623.x","article-title":"The electrocardiogram and sex chromosome aneuploidy","volume":"6","author":"Price, W.H.; Lauder, I.L.; Wilson, J.","year":"1974","unstructured":"Price, W. H., Lauder, I. L., and Wilson, J. (1974). The electrocardiogram and sex chromosome aneuploidy. Clinical Genetics, 6, 1-14.","journal-title":"Clinical Genetics"},{"key":"ref_9","first-page":"531","article-title":"Electrocardiographic studies in individuals with different sex chromosome complement","volume":"233","author":"Price, W.H.; Wilson, J.","year":"1971","unstructured":"Price, W. H., and Wilson, J. (1971). Electrocardiographic studies in individuals with different sex chromosome complement. Fourth International Congress of Human Genetics, 233, 531 (Abst.). Excerpta Medica, Amsterdam.","journal-title":"Fourth International Congress of Human Genetics; Abst.). Excerpta Medica"},{"key":"ref_10","first-page":"1402","article-title":"The electrocardiogram in phenotypic female with primary amenorrhoea, males with the 47, XYY karyotype","volume":"1","author":"Steiness, E.; Nielsen, J.","year":"1970","unstructured":"Steiness, E., and Nielsen, J. (1970). The electrocardiogram in phenotypic female with primary amenorrhoea, males with the 47,XYY karyotype. Lancet, 1, 1402-1403. attractive, and married. At 14 years of age she was operated on for a right inguinal hernia, a frequent Requests for reprints to Dr S. Nanko, Institute of finding in this condition. Height (167 cm) and body Brain Research, University of Tokyo, School of proportions are normal and similar to those in Medicine, Hongo 7-3-1, Bunkyoku, Tokyo, Japan. other subjects with Morris's syndrome. Facial, pubic, 434 5. 6","journal-title":"Lancet; attractive, and married. At 14 years of age she was operated on for a right inguinal hernia, a frequent Requests for reprints to Dr S. Nanko, Institute of finding in this condition. Height (167 cm) and body"},{"key":"ref_11","article-title":"and Cbanding (Salamanca and Armendares","volume-title":"The only detail of relevance concerns the Y chromosome which was rather short in the heterochromatic portion. On the other hand, a Y chromosome with the same characteristics was present in the chromosome complement of the proband's brother, the only normal male of the second generation (Fig. 3). Bilateral buccal smears were X-chromatin positive","volume":"(Fig.","author":"(Dutrillaux, R-banding; Lejeune","year":"1971","unstructured":"R-banding (Dutrillaux and Lejeune, 1971) and Cbanding (Salamanca and Armendares, 1974) (Fig. 2). The only detail of relevance concerns the Y chromosome which was rather short in the heterochromatic portion. On the other hand, a Y chromosome with the same characteristics was present in the chromosome complement of the proband's brother, the only normal male of the second generation (Fig. 3). Bilateral buccal smears were X-chromatin positive."},{"key":"ref_12","article-title":"This patient was born in January 1978, the result of","volume-title":"Ein fall von testicularer the third pregnancy of healthy, non-consanguineous, 26-year-old parents. Previous pregnancies had feminisierung mit dem Karyotyp 47, XXY. Human Genetics, resulted in a miscarriage at 3 months","year":"1976","unstructured":"This patient was born in January 1978, the result of Bartsch-Sandhoff, M., Stephan, L., Rohrborn, G., Pawlowitzki, 1. H., and Scholz, W. (1976). Ein fall von testicularer the third pregnancy of healthy, non-consanguineous, 26-year-old parents. Previous pregnancies had feminisierung mit dem Karyotyp 47,XXY. Human Genetics, resulted in a miscarriage at 3 months' gestation and"},{"key":"ref_13","first-page":"2638","article-title":"Sur une nouvelle technique d'analyse du caryotype humain. Comptes Rendus Hebdomadaires des Seances de l'Academie des","volume":"272","author":"Dutrillaux, B.; Lejeune, J.","year":"1971","unstructured":"Dutrillaux, B., and Lejeune, J. (1971). Sur une nouvelle technique d'analyse du caryotype humain. Comptes Rendus Hebdomadaires des Seances de l'Academie des Sciences, 272, 2638-2640.","journal-title":"Sciences"},{"key":"ref_14","first-page":"5","article-title":"the birth in 1975 of a female who, at the age of 3 years, is of normal appearance and development. The mother is now pregnant for the fourth time. In the pregnancy leading to the birth of our","volume":"9","author":"patient, German; J.; Vesell, M.","year":"1966","unstructured":"the birth in 1975 of a female who, at the age of 3 years, is of normal appearance and development. The mother is now pregnant for the fourth time. In the pregnancy leading to the birth of our patient, German, J., and Vesell, M. (1966). Testicular feminization in amniocentesis was performed without complication monozygotic twins with 47 chromosomes (XXY). Annales de Genetique, 9, 5-8.","journal-title":"Annales de Genetique; Testicular feminization in amniocentesis was performed without complication monozygotic twins with 47 chromosomes (XXY"},{"issue":"6","key":"ref_15","article-title":"Sex chromosome mosaicism in the testicular syndrome. A normal male fetal karyotype was feminization syndrome","volume":"34","author":"E, L.","year":"1969","unstructured":"L. E. (1969). Sex chromosome mosaicism in the testicular syndrome. A normal male fetal karyotype was feminization syndrome. Obstetrics and Gynecology, 34, 6, reported. There is no other known family history of","journal-title":"Obstetrics and Gynecology; reported. There is no other known family history of"},{"key":"ref_16","article-title":"Locus on human X chromosome for dihydrotestosterone birth defect. There was no history of infection or exposure to drugs, and spontaneous vertex delivery receptor and androgen insensitivity. Proceedings of the of a male infant weighing 3-5 kg occurred at 41 weeks","author":"Meyer, W.J.; Migeon, B.R.; Migeon, C.J.","year":"1975","unstructured":"Meyer, W. J., Migeon, B. R., and Migeon, C. J. (1975). Locus on human X chromosome for dihydrotestosterone birth defect. There was no history of infection or exposure to drugs, and spontaneous vertex delivery receptor and androgen insensitivity. Proceedings of the of a male infant weighing 3 - 5 kg occurred at 41 weeks"},{"key":"ref_17","first-page":"135","article-title":"C bands in human metaphase chromosome treated by barium hydroxide","volume":"17","author":"Salamanca, F.; Armendares, S.","year":"1974","unstructured":"Salamanca, F., and Armendares, S. (1974). C bands in human metaphase chromosome treated by barium hydroxide. Annales de Genetique, 17, 135-136.","journal-title":"Annales de Genetique"},{"key":"ref_18","first-page":"193","article-title":"and The infant was transferred after birth to the Special Care Baby Unit because of hiis unusual appearance. He was noted to have an odd face, hypospadias, and Furujama, Y","volume":"54","author":"Uozumi, T.; Nozaki, R.; Matsumoto, K.; Seki, T.","year":"1967","unstructured":"Uozumi, T., Nozaki, R., Matsumoto, K., Seki, T., and The infant was transferred after birth to the Special Care Baby Unit because of hiis unusual appearance. He was noted to have an odd face, hypospadias, and Furujama, Y. (1967). Endocrinological studies of a case bilateral talipes equinovarus. The right kidney was of mosaicism (XO\/XY\/XXY) with clinical appearance of testicular feminization syndrome. Acta Endocrinologica, 54, 193-207.","journal-title":"Acta Endocrinologica; Endocrinological studies of a case bilateral talipes equinovarus. The right kidney was of mosaicism (XO\/XY\/XXY) with clinical appearance of testicular feminization syndrome"},{"article-title":"SUMMARY The clinical and radiological features of a male child with multiple malformations are described. He appears to be an example of a new syndrome recently described by Schinzel and Giedion","year":"1978","key":"ref_19","unstructured":"SUMMARY The clinical and radiological features of a male child with multiple malformations are described. He appears to be an example of a new syndrome recently described by Schinzel and Giedion (1978)."},{"key":"ref_20","article-title":"goloid slant of the palpebral fissures, proptosis, and the pupils, which were small, did not react to light. The nasal bridge was depressed and the nose upturned with multiple telangiectases over the nose and cheeks. The ears were low set, posteriorly rotated, and had protruding lobes. The foreskin was hooded with a ventrally placed meatus. The testes were in the We report a further case of a syndrome recently scrotum. There was bilateral talipes equinovarus, described by Schinzel and Giedion","volume-title":"consisting dimples on both elbows and the right knee, and the of midface retraction, club feet, hypertrichosis, nails were hyperconvex (Fig. 3). The kidneys were","year":"1978","unstructured":"goloid slant of the palpebral fissures, proptosis, and the pupils, which were small, did not react to light. The nasal bridge was depressed and the nose upturned with multiple telangiectases over the nose and cheeks. The ears were low set, posteriorly rotated, and had protruding lobes. The foreskin was hooded with a ventrally placed meatus. The testes were in the We report a further case of a syndrome recently scrotum. There was bilateral talipes equinovarus, described by Schinzel and Giedion (1978) consisting dimples on both elbows and the right knee, and the of midface retraction, club feet, hypertrichosis, nails were hyperconvex (Fig. 3). The kidneys were"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.16.6.480","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:20:16Z","timestamp":1759724416000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.16.6.480"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,12]]},"references-count":20,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1979,12,1]]},"published-print":{"date-parts":[[1979,12]]}},"alternative-id":["10.1136\/jmg.16.6.480"],"URL":"https:\/\/doi.org\/10.1136\/jmg.16.6.480","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1979,12]]}}}