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Child Health A-Z
Chromosomal Abnormalities
Chromosomal Abnormalities
There are many different types of chromosome abnormalities that require clinical care by a physician or other healthcare professional. Listed in the directory below are some, for which we have provided a brief overview.
Last Update
February 3, 2008
February 3, 2008
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Child Health A-Z
- Chance a Chromosome Abnormality Will Occur Again: Numerical, Structural (Inherited and De Novo), Mosaicism
- Chromosome Abnormalities
- How Chromosome Abnormalities Happen: Meiosis, Mitosis, Maternal Age, Environment
- Overview of Chromosome Abnormalities
- The Difference Between a Chromosome Abnormality and a Single Gene Defect
- X-linked Agammaglobulinemia
- Problems in Prenatal Development of the Digestive Tract
- Autosomal Dominant: Marfan Syndrome
- Overview of Birth Defects
- Biochemical Genetic Testing
- Chromosome Studies: Karyotype, Extended Banding, Fluorescence In Situ Hybridization (FISH), and Chromosomal Microarray Analysis
- When to Seek Genetic Counseling
- Phenytoin (Dilantin)
- Down Syndrome (Trisomy 21)
- Fetal Alcohol Syndrome
- Overview of Single Gene Defects
- The Human Genome Project
- Identifying Teratogens
- Identification, Treatment, and Prevention of Birth Defects
- Medical Genetics
- Medical History and Genetic Testing
- Mitochondrial Inheritance: Leber's Optic Atrophy
- Mosaicism
- Mosaic Down Syndrome
- Multifactorial Inheritance
- Evaluating a Child for Birth Defects
- Examples of Non-Teratogenic Agents
- Non-Traditional Inheritance
- Numerical Abnormalities: Overview of Trisomies and Monosomies
- Online Resources - Medical Genetics
- Overview of Newborn Screening for Birth Defects
- Before Your Next Pregnancy
- Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay Sachs Disease
- Other Arrangements: Rings and Inversions
- Genetic Services: When, Where, How
- Single Gene Defects
- Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian)
- Studies for Single Gene Defects: DNA (Direct and Indirect)
- Support Groups
- Examples of Teratogens
- Teratogens
- Testing for Birth Defects
- Translocation Down Syndrome
- Translocations
- Trinucleotide Repeats: Fragile-X Syndrome
- Trisomy 18 and 13
- Turner Syndrome
- Types of Chromosome Abnormalities
- Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome
- Uses of Genetic Testing
- Varicella
- Vitamin, Gene, and Enzyme Replacement Therapy
- X-linked Dominant: Incontinentia Pigmenti
- X-linked Recessive: Red-Green Color Blindness, Hemophilia A
- Adding to Mother's Milk
- Anorectal Malformation
- Apnea of Prematurity
- Assessments for Newborn Babies
- Overview of Birth Defects
- Birth Defects
- The Benefits of Mother's Own Milk
- Birth Injury
- Blood Disorders
- Blood Types in Pregnancy
- Breastfeeding the High-Risk Newborn
- Caring for Babies in the NICU
- Common Conditions and Complications
- Congenital Heart Disease
- Chronic Lung Disease
- Cleft Lip / Cleft Palate
- Clubfoot
- Cytomegalovirus (CMV)
- Disorders of the Brain and Nervous System
- Developmental Dysplasia of the Hip (DDH)
- Infant of Diabetic Mother
- Digestive Disorders
- Down Syndrome (Trisomy 21)
- Diaphragmatic Hernia
- Procedures and Equipment in NICU
- Milk Expression
- Milk Expression Techniques
- Fetal Alcohol Syndrome (FAS)
- Blood Circulation in the Fetus and Newborn
- Group B Streptococcus
- Gastroesophageal Reflux (GER)
- Heart Disorders
- Hydrocephalus
- Hemolytic Disease of the Newborn
- Hearing Loss in Babies
- Human Immunodeficiency Virus (HIV)
- Hyaline Membrane Disease / Respiratory Distress Syndrome
- Hemorrhagic Disease of the Newborn (Vitamin K Deficiency)
- Hypospadias
- Hydrops Fetalis
- Hyperbilirubinemia and Jaundice
- Hypocalcemia
- Blood Glucose - Hypoglycemia
- Intravenous Line and Tubes
- High-Risk Newborn
- Infection in Babies
- Intraventricular Hemorrhage
- Low Birthweight
- Large for Gestational Age (LGA)
- Meconium Aspiration
- Milk Collection and Storage
- Moving Towards Breastfeeding
- Neonatal Abstinence Syndrome
- Necrotizing Enterocolitis
- The Neonatal Intensive Care Unit (NICU)
- Delayed or Not Enough Milk Production
- Nutrition and Fluids
- Omphalocele
- Online Resources - High-Risk Newborn
- Overview of Blood
- Patent Ductus Arteriosus (PDA)
- Physical Abnormalities
- Pneumothorax
- Polycythemia
- Postmaturity
- Persistent Pulmonary Hypertension
- Prematurity
- Parenting in the Neonatal Intensive Care Unit (NICU)
- Periventricular Leukomalacia (PVL)
- Pyloric Stenosis
- Taking Your Baby Home
- Respiratory Disorders
- Retinopathy of Prematurity
- The Respiratory System in Babies
- Respiratory Syncytial Virus (RSV)
- Sepsis
- Small for Gestational Age
- Sudden Infant Death Syndrome (SIDS)
- Special Care
- Spina Bifida
- Substance Exposure
- Testing and Lab Procedures
- Thrombocytopenia
- Trisomy 18 and 13
- Transient Tachypnea of the Newborn
- Turner Syndrome
- Hernia (Umbilical / Inguinal)
- Vision and Hearing
- Very Low Birthweight
- Warmth and Temperature Regulation
- When a Baby Has Difficulty After Birth
- Newborn Complications
- Apnea of Prematurity
- Genetic Disorders Associated with Congenital Heart Disease
- Down Syndrome (Trisomy 21)
- Glossary
- Glossary
