১.
Turners syndrome is associated with -
PrepBank · বিষয়ভিত্তিক প্রশ্ন
Chromosomal Abnormalities
Chromosomal Abnormalities
PrepBank · পাতা ১ / ১ · ১–৭ / ৭
২.
Which is not the cause of down syndrome -
ব্যাখ্যা
Explanation -
Causes of down syndrome -
Non dysjunction ( 94%)
Mosaicism ( 2%)
Robertsonian translocation ( 4%)
Causes of down syndrome -
Non dysjunction ( 94%)
Mosaicism ( 2%)
Robertsonian translocation ( 4%)
৩.
Barr body -
ব্যাখ্যা
Explanation :
Barr body :
Tightly coiled clump of chromatin
Found microacopically in interphase of cell
Presents in lining of the check ( buccal mucosa)
Absent in normal male
Barr body :
Tightly coiled clump of chromatin
Found microacopically in interphase of cell
Presents in lining of the check ( buccal mucosa)
Absent in normal male
৪.
Which is imprinting disorder -
ব্যাখ্যা
Explanation :
Imprinting disorders -
Beckwith wiedermann syndrome
Prader willi syndrome
Anglemann syndrome
Imprinting disorders -
Beckwith wiedermann syndrome
Prader willi syndrome
Anglemann syndrome
৫.
Down syndrome may associated with -
ব্যাখ্যা
Explanation :
Approximately 40% of the patients have congenital heart disease. The most frequent forms of congenital heart diseases in Down syndrome are atrioventricular septal defects constituting 43% of cases, whereas ventricular septal defects, atrial septal defects, and tetralogy of Fallot also involved.
Children with trisomy 21 have a high risk of developing leukemia; there is 20-fold increased risk of developing acute B lymphoblastic leukemias and 500-fold increased risk of acute myeloid leukemias. The latter, most commonly, is acute megakaryoblastic leukemia.
• Virtually all patients with trisomy 21 older than age 40 develop neuropathologic changes characteristic of Alzheimer disease, a degenerative disorder of the brain.
• Patients with Down syndrome have abnormal immune responses that predispose them to serious infections, particularly of the lungs, and to thyroid autoimmunity, causing hypothyroidism .
Approximately 40% of the patients have congenital heart disease. The most frequent forms of congenital heart diseases in Down syndrome are atrioventricular septal defects constituting 43% of cases, whereas ventricular septal defects, atrial septal defects, and tetralogy of Fallot also involved.
Children with trisomy 21 have a high risk of developing leukemia; there is 20-fold increased risk of developing acute B lymphoblastic leukemias and 500-fold increased risk of acute myeloid leukemias. The latter, most commonly, is acute megakaryoblastic leukemia.
• Virtually all patients with trisomy 21 older than age 40 develop neuropathologic changes characteristic of Alzheimer disease, a degenerative disorder of the brain.
• Patients with Down syndrome have abnormal immune responses that predispose them to serious infections, particularly of the lungs, and to thyroid autoimmunity, causing hypothyroidism .
৬.
Features of edward syndrome -
৭.
Karyotype of sex chromosomal aneuploidy -
ব্যাখ্যা
Explanation :
Sex chromosomal aneuploidy :
Turners syndrome : 45,XO
Klinfelters syndrome : 47,XXY
Super female : 47,XXX
Sex chromosomal aneuploidy :
Turners syndrome : 45,XO
Klinfelters syndrome : 47,XXY
Super female : 47,XXX