Doctor insights on:
Chromosome 9 Deletion Syndrome
2 early MC, heartbeat seen 2nd case, no live birth, turner's synd in fetus 2nd case, karyotyping & immunological tests normal. Way fwd? More tests?
Maternal fetal medicine: specialist is what you need with your high risk pregnancies, if you don't have one available in your area please seek advice in a teaching hospital ...Read more
No: This is a classic homework question and an important idea. If a child does not have a good copy of ubd3a from mom, the child gets angelman's. If a child does not have a good copy of ubd3a from dad, the child gets prader-willi. This is imprinting and is a subtle concept, unlike the easier idea of sex-linked inheritance. ...Read more
22 or 21 whatever ?: Trisomy's are causes by an abnormality at conception. The egg & sperm are both expected to bring one chromosome from each of the parents 23 pairs.If an extra comes along in the egg or sperm (usually egg), the joining produces 22 pairs & one triplet or trisomy.Chromosomes carry the genes. Too many genes confuse the cell. Some lump this with gene disorders because gene docs follow the patients ...Read moreSee 1 more doctor answer
CML 10/12. Gleevec .5 log at 6 mths. Sprycel (dasatinib) .5 log at 6 mths. Stem cell transplant 4/14. 7/14 Blast crisis - 65% blast BM + Aspergillus F lung Help?
Difficult case: it is a complicated case obviously. first and foremost the infection has to be treated. i would suggest you to follow up with ID and oncologist very closely. importantly is to check if there is certain mutation like T315i mutation as this mutation is resistant to gleevec, sprycel, tasigna (nilotinib) - and should be treated with ponatinib or aurora kinase inhibitor etc. discuss with oncologist. God bless ...Read more
Pat.With dm and ht present with ischemic cva(> 1/3 MCA distribution) ECG show af. When we start anticoagulant?
35 F. rare bite cells & hypocellular marrow 15-20%. mild polychromasia & high retic. Trigeminal neuralgia & atypical hemangioma in c4 vert. Related?
Two likely forms: Progeria syndrome is considered a sporadic (new mutation) phenomenon that has few prenatal indicators. At an average birth wt of 6lb (2.7kg), the relatively small size during gestation is not specific to this disorder. There are rare instances of siblings to normal parents, showing that an autosomal recessive form exists.Most begin to show signs by 6-18mo. ...Read more
MVP: Marfan's syndrome is a genetic connective tissue disorder. People with marfan's are unusually tall, with long limbs, long thin fingers. The most serious complications are defects of the heart valves (like mitral valve prolapse) and aorta (aneurysms-dilation). Aortic root measurements greater than 1 1/2 times normal are worrisome (average 4cm or greater). ...Read moreSee 1 more doctor answer
14/male results/ catecholamine norm?
Norepinephrine, supine 136.0 pg/ml
* epinephrine, <10 pg/ml
*dopamine, <10 pg/ml
norepinephrine, stand 457.0 pg/ml
epinephrine, 14.0 pg/ml
dopamine, 16.0 pg/m
Rare problem: Ehlers danlos syndrome is a collection of at least 10 separate entities that have in common an abnormality of collagen production. The inheritance patterns include dominant, recessive, x-linked & has been reported as a new mutation. There is broad variability of expression within each subtype.The prevalence estimates range from 1/5000 to 1/100, 000 depending on type. ...Read more
Single live intrauterine preg with 32w4d cephalic pres, with mild increase in liquor qty, placenta anterior, upper seg grd 2 mat, liquor slightly more?
Major substrate: Fibrillin is a major building block of microfibrils which constitute part of the important substrate for the connective tissue so developing a defective pattern. I guess you might be asking about marfans syndrome which is the ailment associated with the fbn1 gene mutation. This is the background problem to the cardiac, ocular and musculoskeletal issues that caracterize marfans. ...Read more
Chloride 94.9 L, Anion Gap 16.1 H, AST 58 H, Immature Granulocytes ABS 0.01 H,Ketones urine SMALL NEG. A, specific gravity urine <1.005 L. ?
Emg & ncv2 unit test result:sensory polyneuropathy & possible bilateral c8, t1, l4& L5 rediculopathy.What does that mean? Not alcoholic nor diabtc & hiv
Possibly: Cvs in children has much more study behind it than in adults, and therefore, less information to draw from. Recent studies suggest that many of the characteristics of cvs are independent of age. As the cause is still unknown, treatment consists of mainly managing the symptoms. As with all conditions, seek the advice of your physician and internal medicine specialist. ...Read moreSee 1 more doctor answer
MRA report. Nonvisualization right A1 &P1 segment. Rt anterior cerebral artery. Congenital or acquired occlusion. What does this mean ?
MRA report: The correct thing to do is to ask the physician who ordered the test to explain the findings to you ...Read more
EKG sinus rhythm rapid, prem ventri complexes, doubles of prem ventri complexes, doubles of aberrantly conducted complexes & more what does it mean?
Abnormal EKG: Lots of people have PVCs and some have bigeminy ( doubles) - but the abberant complexes are not usual. EKGs are difficult to read and a cardiologist should review the EKG to ascertain what the irregular beats are ( if it is truly abberant). May do further studies to see where the irregularity is coming from, if abnormal conduction may ablate, use medication or pacemaker. F/u/ w/ cardiologist ...Read more
I'm 22, female, type 1 diabetic 20 years & graves disease. Had baby 12/2 & sick for month. Angina, irregular heartrate, syncope, short of breath. Help?
I am wondering if people living with c-18Q- chromosomal deletion syndrome have trouble fighting off infections or have low levels of iga.
18q- means a piece : of The long arm of the 18th chromosome is missing. There are hundreds of different genes located on the long arm, so there are potentiallyhundreds of different combinations of jeans which might be missing and they all would have different problems depending on the function of the genes missing. See http://ghr.nlm.nih.gov/chromosome/18 ...Read more
My daughter has deletion 22q chromosome syndrome.I took highlevels of Dilantin while pregnant with her.Is there a connection?
Difficult to know: Ninety % of these are newly formed accidents in chromosome replication, cause unknown . The issue would be present in the egg or sperm before or at conception. Whether your exposure to Dilantin during formation of your eggs had any effect is not known. High levels of Dilantin during pregnancy do produce an effect on a fetus but chromosome changes is not part of that process. ...Read moreSee 2 more doctor answers
A known syndrome: "a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2. The features of this condition vary widely...Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, an weak muscle tone." http://ghr.nlm.nih.gov/condition/22q112-duplication ...Read more
No: XYY syndrome is neither autosomal dominant or recessive. See a geneticist about inheritance patterns. It is often causes by chromosome nondysjunction (lack of separation). There is not a particular chromosome but the sex chromosomes are called X and Y. Females typically are XX and Males XY. XYY is causes by a Y chromosome separation issue. XYY individuals are usually normal males ...Read more
Klinefelter Syndrome: Hi, Klinefelter Syndrome, or XYY syndrome is a syndrome where males have an extra Y chromosome, which makes them 47 XYY rather than 46 XY. It is not a sex-linked, autosomal dominant, nor autosomal recessive disorder. The inclusion of the extra Y chromosome is thought to be a random event, even in cases of 47 XYY mosaicism. Follow this link: http://ghr.nlm.nih.gov/condition/47xyy-syndrome ...Read more
Various.: Zellweger syndrome is a genetically heterogeneous disorder and can be caused by mutation in any one of several genes involved in peroxisome biogenesis, including peroxin-1 (pex1; 602136) on chromosome 7q21, peroxin-2 (pex2; 170993) on 8q21, peroxin-3 (pex3; 603164) on 6q23-q24, peroxin-5 (pex5; 600414) on 12p13, peroxin-6 (pex6; 601498) on 6p21, peroxin-7 (pex7; 601757) on 6q22-q24, peroxin-10 (pe. ...Read more
No: Down syndrome is an abnormality of chromosome numbers, not a mutation on a sex chromosome. During conception only one of chromosome of each pair is given by both parents to the fertile egg.If a parent adds their 2 # 21 chm to the other parents # 21, 3 end up in the egg ; the excess 21 causes the all the problems.Rare forms are causes by a extra piece of a 21, but that's another issue. ...Read moreSee 1 more doctor answer
Nondisjunction: When the cells divide in the ovaries and testes to form eggs and sperm, they go through a process called meiosis where half of the paired chromosomes go to one cell and half go to the other. There is a phenomenon called nondisjunction where the chromosomes segregate unequally, causing an extra chromosome in one cell and the lack of a chromosome in the other. ...Read moreSee 1 more doctor answer
Chromosome 2: p12-11.2 Deletion Syndrome can cause unusual facial features, developmental delays, small head circumference, & increased risk of kidney tumor. Seek a clinical evaluation by a geneticist who has reviewed baby's pre-, peri- & postnatal medical history,head & body growth charts, family history & results of Chromosomal Microarray on baby & parents to obtain a correct diagnosis & prognosis. ...Read more
Sex chromosome: Turner syndrome involves the survival of a fetus that carries only one of 2 sex chromosomes, that being an x which assigns it female sex features. There are mosaic forms that may have mostly one x while a percentage of cells carry xx. The non-sex chromosomes are not involved in this process. ...Read more
Down syndrome.: The most common chromosomal abnormality in a newborn population was trisomy 21 (down), with an incidence of 1 in 730 live births. Abnormalities of the sex chromosomes (eg, monosomy x or turner, xxy, xyy, xxx) and structural balanced rearrangements also occurred frequently. Trisomy 16 is the most common aneuploidy in abortuses. Trisomy 18 (edwards), and 13 (patau) are most common in stillborns. ...Read more
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Other than down syndrome, what are two diseases that occur when an abnormal number of chromosomes develop?
Can you tell me is hurler's syndrome nondisjunction, a sex-linked disorder or a type of mutation in a specific chromosome?
Recessive disorder: Hurler syndrome is caused by a mutation in idua gene located in chromosome #4. It is an autosomal recessive condition which means that one has both copies of the gene changed, the one inherited from father, and the one from mother. Parents are thus carriers of the condition. ...Read more
How do I make a punnutt square for Down Syndrome. Yes, it's a chromosome defect, but it can also be inherited. answer asap. Thanks!
Can chromosomal microarray detect down syndrome? What's the difference between chromosomal microarray and the conventional karyotypying?
It may, depends: First step is conventional karyotyping, if the clinical suspicion present for Down syndrome, detection of an extra chromosome 21, or triploidy, instead of two. In 95% of Down syndrome it's diagnostic, but If it didn't detect and suspicion still there - next step could be a microarray, which designed to detect submicroscopic abnormalities not detected by regular karyotyping for the rest of 5% D-se ...Read more
Not so simple: There are at least 8 different chromosomes implicated in the many different forms of this condition. Each form is a different level of severity and should be cared for by a team who can address the hearing concerns as well as the visual effects. ...Read more
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- Types of chromosome deletion syndromes
- Chromosome 9 inversion syndrome
- Chromosome 9 trisomy syndrome
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- Chromosome 15 deletion
- Chromosome 13 deletion
- Chromosome 16 deletion
- Chromosome 12 deletion
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