Understanding Chromosomal Anomalies: Causes, Symptoms, and Management

Sign In

All Posts Conditions Community About

Explore Over 11,000+ Conditions, Medications, and Symptoms.

Get a personalized feed by signing up for free.

All Conditions

Chromosomal Anomalies

by Alike Medical Team ∙ Updated on June 13, 2023

Additional names

This group contains additional names: - Cri-du-Chat Syndrome - Patau's Syndrome - Klinefelter's Syndrome - XXY syndrome - Velo-Cardio-Facial Syndrome - Deletion 22q11.2 - Balanced Autosomal Translocation - Edwards' Syndrome - Trisomy 18 - Autosomal Deletion Syndromes

General

Chromosomes are structures that contain the genes that encode all of the body functions and traits. Chromosomes are typically paired and each one is built from two segments (arms), separated by a centromere. There are normally 46 chromosomes, 23 pairs- one set of each pair is maternal and the other one is paternal. Sex chromosomes determine the individual’s sex- females have 2 X chromosomes (XX), whearas men have an X chromosome and a Y chromosome (XY). Chromosomal anomalies are divided into numerical anomalies, meaning the individual is missing or has an extra chromosome. An example for this kind of anomaly is trisomy 21, known as Down syndrome. Also, Turner syndrome is a condition in which a female is born with only one X chromosome. Structural anomaly means that the chromosome structure has been changed in a certain way- deletion, duplication, translocation or inversion. Most of the abnormalities occur by mistake in the egg or sperm and are present in all of the individual’s body cells. Otherwise, the mistake occurs after the conception and then only some of the body cells have it (mosaicism). The abnormality is either inherited or new- de novo. Chromosomal abnormalities occur either during mitosis or meiosis, which are stages in the cell division cycle. Risk factors for chromosomal abnormalities are advanced maternal age and some environmental factors. Abnormalities can cause many different symptoms or signs, depending on the specific cause.

75 people with Chromosomal Anomalies

Learn from others who are experiencing Chromosomal Anomalies.

Signs & symptoms

As chromosomal anomalies are a large group of anomalies and contain many anomalies, symptoms vary. Symptoms may include abnormally-shaped head, failure to thrive, low stature, infertility, cleft lip, learning disabilities, low birth weight, developmental delay, cognitive impairments, physical impairments, heart/lungs/kidneys/stomach defects, reduced muscle mass, distinctive facial features.

Diagnosis

Diagnosis of chromosomal anomalies can be done in various techniques: Chromosomal analysis (karyotyping) Banding Fluorescent in situ hybridization (FISH) Chromosomal microarray analysis (array comparative genomic hybridization) Lymphocytes are typically used for chromosomal analysis, except prenatally, when amniocytes or cells from placental chorionic villi are used.

Treatment

Treatment for chromosomal abnormalities vary and depend on the condition, its severity and the symptoms that are present.

Note

☝ We provide information on prescription and over-the-counter medicines, diagnosis, procedures and lab tests. This material is provided for educational purposes only and is not medical advice, diagnosis or treatment.

National Institutes of Health ∙ World Health Organization ∙ MedlinePluse ∙ Centers for Disease Control and Prevention

☝ All information has been reviewed by certified physicians from Alike

Latest Discussions

Paula58

3mo

When you get a bone marrow biopsy they look for...

Anita_berg

4mo

Just to introduce myself. I was diagnosed in 2010,...

3rivers

5mo

**Trisomy 12** & unmutated, I was in a study in Nov...

Hibiscus52

5mo

I’m **Trisomy 12** unmutated as well and am on my 2nd...

DennisB

5mo

My Cancer Treatment Journey: From Diagnosis to...

Cartwheels

5mo

Introduction and Update on CLL Treatment Journey

Alike Wisdom

Instantly get answers to medical questions with our AI, built from the collective wisdom of our community facing similar experiences

When you get a bone marrow biopsy they look for changes to your genes. Translocations, additions and **deletions**.

Just to introduce myself. I was diagnosed in 2010, **Trisomy 12** unmutated. I was in watch and wait until 2019. Started having significant infections with a steeply declining hemoglobin count. WBC was 287,000 and hemoglobin was below 9 when I entered a clinical trial in 2020 combining Bendamustine (Light 3 cycles to reduce tumor load), rituximab and venetoclax. After 2nd round of Bendamustine, I developed Steven Johnson Syndrome and was hospitalized for 6 days. Fortunately, it wasn't too severe and I recovered pretty quickly. After several months of treatment (rituximab and venetoclax), I became neutopenic, then developed pneumonia with another hospital stay. I am now out of treatment, achieved MRD negative on early 2022, and am currently still in remission. Feeling good, and very happy that there are now multiple treatment options. I now fully expect to live a long l, healthy and happy life. Thankful for all my friends, family and those that provided support during treatment.

**Trisomy 12** & unmutated, I was in a study in Nov 2015 to Mar 2016 of Bendamustine & Gazyva. No cll found in June bone marrow biopsy & MRI. Onc said I should achieve 5-7 years before needing treatment again. Currently in year 8. I told him I was shooting for 10 years and then we’ll discuss 😂

I’m **Trisomy 12** unmutated as well and am on my 2nd treatment . First treatment gave me a year and hopefully Acalabrutinib, 2nd year now, provided a fairly long term outcome.

My Cancer Treatment Journey: From Diagnosis to Remission