ฐานข้อมูลวิจัยด้านสุขภาพจิตและจิตเวช

ผู้วิจัย/Authors: Pornswas Wasant

ชื่อเรื่อง/Title: Fragile X Syndrome:Case Report and Review of Literature

แหล่งที่มา/Source: Siriraj Hospital Gazette, Vol. 46, No. 3, March 1994. Page 218-224

รายละเอียด / Details:

Fragile X Syndrome or X-linked mental retardation XLMR is one of the most common and perplexing discoveries in modern medical genetics. The association of the fragile X chromosome with mental retardation was originally described by Lubs 1969 in his report of alarge kindred with XLMR. The incidence is 1 in 2000 males. It is characterized by moderately severe mental retardation in males and inducible cytogenetic marker (a fragile site) on the long arm of the X chromosome (Xq 27.3). Growth in folate-deficient media or addition of folic acid antagonist methotrexate MTX, induces expression of fragile X. Phenotypic features include long and narrow face, prominent forehead and jaws, large protruding ears and macroorchidism. Disabilities range from varying degree of learning problems to mental retardation severe language delay, behaviour problems autism or autistic-like behaviour hyperactivity, delayed motor development and poor sensory skills. Joint hypermobility, hypotonia and mitral valve prolapse are also common features. We reported an eight-year-old male who was referred for evaluation of speech problem and mental retardation. The cytogenetic study demonstrated 46, XY, fra (X) q 27.3. Exhaustive review of literature is also summarized. This is most likely first reported caseof fragile X syndrome in Thailand.

Keywords: Fragile X Syndrome, MR, mental retardation

ปีที่เผยแพร่/Year: 1994

Address: Department of Pediatrics, Luei Provincial Hospital, Luei

Code: 00006164

ISSN/ISBN: 0125-152X

Country of publication: Thailand.

Language: English.

Category: Abstract Journal.

Download: -