Deletion of 8p: a report of a child with normal intelligence.
نویسندگان
چکیده
The case is presented of a female infant with a distal deletion of 8p (8p23.1-->pter) whose development was monitored over a 5-year period from 12 months of age. Although previous literature has suggested that 8p deletion is associated with mild to moderate intellectual disability, the child reported here has normal intelligence. Despite initial delays in gross motor and language skills, cognitive development (assessed with the Bayley Scales of Infant Development) and intellectual ability (measured on the Stanford-Binet Intelligence Scale) were within average range. It is argued that the small number of previous case reports may have created a misleading impression of intellectual development in individuals with distal deletions of 8p.
منابع مشابه
Cri du Chat Syndrome: a Case Report with Recurrent Pneumonia and Chronic Stridor
Introduction Cri du chat syndrome is a rare genetic disorder due to deletion of variable length of short arm of chromosome 5(5p). It mainly presents with typical cat like cry, facial dysmorphism, poor growth with feeding problems and severe cognitive, speech, and motor delays. Case Report We present here a one year old child who did not presented with typical features but presented with recurre...
متن کاملInverted duplication deletion of 8P: characterization by standard cytogenetic and SNP array analyses.
Inverted 8p duplication deletions are recurrent chromosomal rearrangements that most often arise through non-allelic homologous recombination (NAHR) during maternal meiosis between segmental duplications made up of the olfactory receptor (OR) gene clusters. The presence of a paracentric inversion polymorphism in 8p23.1, found in approximately 26% of European population, may trigger meiotic misa...
متن کاملMosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event.
Various chromosomal rearrangements are associated with the distal 8p region. Among them are the inv dup(8p), del(8p22), and del(8)(pter). The cardinal phenotypic features of the inv dup(8p) are brain malformations, severe mental retardation with specific involvement of speech, and minor facial dysmorphisms. Deletions (8p22) are associated with congenital heart malformations, thought to be cause...
متن کاملA Patient with Interstitial 5q21 Deletion, Familial Adenomatous Polyposis, Dysmorphic Features, and Profound Neurologic Dysfunction
Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also...
متن کاملThe First Report of a 290-bp Deletion in β-Globin Gene in the South of Iran
Background: β-thalassemia is one of the most widespread disease in the world, including Iran. In this study, we reported, for the first time, A 290-bp β-globin gene deletion in the south of Iran. Methods: Four individuals from three unrelated families with Arabic ethnic background were studied in Khuzestan Province. Red blood cell indices and hemoglobin analysis were carried out accor...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Developmental medicine and child neurology
دوره 43 12 شماره
صفحات -
تاریخ انتشار 2001