Interstitial deletion 2q24.3: case report with high resolution banding.

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Interstitial deletion 2q24.3: case report with high resolution banding.

Interstitial deletions of the long arm of chromosome 2, involving band 2q24, have been described on three occasions. We report our findings in a further case, in which we mapped the deletion to band 2q24.3.

متن کامل

A 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 کامل

a 2.5 months old girl with interstitial lung disease-a case report

Children interstitial lung (ChILD) disease is a large group of disorders with damage in alveolus and capillary. Although these disorders resemble ILD of adult in nomination, ChILD represents different pathologic and clinical patterns. A 2.5 months old girl, with failure to thrive and grunting and dyspnea, complained of staccato coughs without association with feeding, since she was 15 days o...

متن کامل

De novo interstitial deletion in the long arm of chromosome 11: a case report.

The 11q terminal deletion disorder is a rare genetic disorder associated with numerous clinical features. A few case reports have been made about de novo interstitial deletion of chromosome 11q. However, due to the heterogeneity in size and position of the deletions, a clear genotype-phenotype correlation is not easily made. Here we report a case interstitial 20.5-Mb deletion at chromosome 11q1...

متن کامل

Interstitial deletion of chromosome 10q23: a new case and review.

A new case of a deletion of 10q23 is described. Only two other deletions involving this region have been previously noted. A review of clinical features of these three children did not show a distinct pattern of dysmorphic features. Other interstitial deletions of 10q are listed.

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1985

ISSN: 1468-6244

DOI: 10.1136/jmg.22.3.226