48,XXXX

Publication Details

  • Berg J M, Karlinsky H, Korossy M, Pakula Z: Twenty-six years later: a woman with tetra-X chromosomes. J. Ment. Def. Res. 32:67-74, 1988. [PubMed: 3361607]
    Patient J. H. was originally reported by Carr et al., (1961). An interesting follow-up report on this 56 year old lady with social and developmental details.

  • Brondum-Nielsen K, Christensen K.: Chromosome 22q11 deletion and other chromosome aberrations in cases with cleft palate, congenital heart defects and /or mental disability. A survey based on the Danish Facial Cleft Register. Clin. Genet. 50:116-120, 1996. [PubMed: 8946108]
    Case E

  • Carr D H, Barr M L, Plunkett E R: An XXXX sex chromosome complex in two mentally defective females. Canad. Med. Assoc. J. 84:131-137, 1961. [PMC free article: PMC1939166] [PubMed: 13690988]
    First report of this chromosomal abnormality.
    Two cases are presented.

  • Collen R J, Falk R E, Lippe B M, Kaplan S A: A 48,XXXX female with absence of ovaries. AJMG 6:275-278, 1980. [PubMed: 7211945]
    Farge P, Dallaire L, Albert G, Melancon S B, Potier M, Leboeuf G: Oral and dental development in X chromosome aneuploidy. Clin. Genet. 27:122-126, 1985. [PubMed: 3978846]
    Case 3.
    48,XXXX.
    Patient V.S., 000258, was 16 1/2 years old with primary amenorrhea, mild mental retardation, radioulnar synostosis, increased levels of gonadotropins, a small midline uterus, 2 fallopian tubes, and fimbriae.
    Index Terms: Gonadal dysgenesis ... hypergonadotropism,Radioulnar synostosis

  • Fehlow P, Miosge W, Walther F.: A case of tetra-X-syndrome with epilepsy, severe mental retardation and multiple dysmorphias. Klin. Padiat. 205:127-129, 1993. [PubMed: 8487481]
    The patient was 21 years old.
    Index Terms: Epilepsy

  • Gardner R J M, Veale A M O, Sands V E, Holdaway M D H: XXXX syndrome: case report, and a note on genetic counselling and fertility. Humangenetik 17:323-330, 1973. [PubMed: 4694514]
    Reportedly cited as a 19th case with this karyotype. A table of characteristics and parental ages has been provided on these cases.

  • Hara S, Haywood B D, Davis K K, Sherrill M V, Blackshear A, Crump E P: A black female with the 48,XXXX chromosome constitution. Am. J. Ment. Defic. 79:464-466, 1974. [PubMed: 1115107]
    Case J.A. (240352) in this report.

  • Howard-Peebles P N, Markiton R: A tetra-X female: Cytogenetic testing, dermatoglyphic studies, and speech impairment. Am. J. Ment. Defic. 84:252-255, 1979. [PubMed: 525653]
    The proband was a 25.92 year old caucasian female, with moderate retardation, extremely low ridge count, had a language age of 6.25 years and exhibited many articulation errors.
    Index Terms: Language deficit

  • Linden M G, Bender B G, Robinson A.: Sex chromosome tetrasomy and pentasomy. Pediatrics 96:672-682, 1995. [PubMed: 7567329]
    Robinson W P, Binkert F, Schinzel A A, Basaran S, Mikelsaar R: Multiple origins of X chromosome tetrasomy. J. Med. Genet. 31:424-425, 1994. [PMC free article: PMC1049884] [PubMed: 8064828]
    Cases 1: A.D. and 2: A.R.
    The patients were 4 and 5 year olds respectively.

  • Nielsen J, Homma A, Christiansen F, Rasmussen K: Women with tetra-X(48,XXXX). Hereditas 85:151-156, 1977. [PubMed: 885729]
    Proband(131009) in this report, a 66 year old patient is described in this interesting report.

  • Plauchu H, Ollagnon-Roman E, Armand J P, Robert J M: 48,XXXX syndrome, psychomotor development evaluated from birth to age 11 years and review of the literature. Ann. Genet. 31:105-110, 1988. [PubMed: 3041908]
    Mental retardation, hypertelorism, epicanthahic folds and genital anomalies were present.

  • Walbaum R, Vandevelde-Staquet M F, Lefebre Ch, Gramey D K, DeLattve B, LeConte D: Syndrome 48,XXXX chez un nourrisson. J. Genet. Hum. 21:43-56, 1973. [PubMed: 4742123]