VII - Genetic and Pediatric Diseases Flashcards Preview

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Flashcards in VII - Genetic and Pediatric Diseases Deck (184)
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61

Trisomy 13 is also called _________ syndrome.

Patau syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.244

62

Syndrome characterized by a prominent occiput, low set ears, micrognathia, rocker-bottom feet, renal malformation, mental retardation and heart defects.

Edwards syndrome / trisomy 18(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

63

Syndrome characterized by mental retardation, microcephaly, micropthalmia, polydactyly, cleft lip and palate, cardiac and renal defects, umbillical hernia and rocker-bottom feet.

Patau syndrome/Trisomy 13(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

64

Syndrome characterized by thymic hypoplasia with diminished T-cell immunity and parathyroid hypoplasia with hypocalcemia.

DiGeorge syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

65

Syndrome characterized by congenital heart disease affecting outflow tracts, facial dysmorphism and developmental delay.

Velocardiofacial syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

66

Deletion of genes from this chromosome gives rise to DiGeorge and velocardiofacial syndromes.

22q11.2Remember mnemonic CATCH22(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

67

The q from 22q11.2 refers to ________.

"Long arm" of chromosome 22.(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.246

68

Syndrome defined as male hypogonadism that develops when there are at least two X chromosomes and one or more Y chromosomes.

Klinefelter syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.246

69

Syndrome manifested by a eunochoid body habitus, reduced facial, body and pubic hair, gynecomastia, testicular atrophy, decreased serum testorerone and increased urinary gonadotropin levels. It is the most common cause of hypogonadism in males.

Klinefelter syndrome (TOPNOTCH)Robbins Basic Pathology, 8th Ed p.246

70

Most common chromosomal derangement in Klinefelter syndrome.

47XXY(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.246

71

Syndrome which results from the partial or complete monosomy of the short arm of the X chromosome.

Turner syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.247

72

Inheritance associated with mitochondrial DNA.

Maternal inheritance(TOPNOTCH)

73

Neurodegenerative disease which manifests as progressive bilateral loss of central vision that leads to blindness. This is the prototypical disorder of mutations in mitochondrial genes.

Leber hereditary optic neuropathy(TOPNOTCH)

74

Inheritance associated with mitochondrial DNA.

Maternal inheritance(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.247

75

An epigenetic process wherein certain genes are differentially "inactivated" during paternal and maternal gametogenesis.

Genomic imprinting(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.252

76

This refers to transcriptional silencing of the maternal allele.

Maternal imprinting(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.251

77

Refers to the transcriptional silencing of the paternal allele.

Paternal imprinting(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.251

78

Syndrome characterized by mental retardation, short stature, hypotonia, obesity, small hands and feet, and hypogonadism. Paternal imprinting.

Prader-Willi syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.251

79

Syndrome manifested as mental retardation, ataxic gait, seizures and inappropriate laughter. Also called the "happy puppet syndrome". Maternal imprinting.

Angelman syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.251

80

These represent primary errors of morphogenesis due to an intrinsically abnormal developmental process.

Malformations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.254

81

These result from secondary destruction of an organ or body region that was previously normal in development, due to an extrinsic disturbance in morphogenesis.

Disruptions(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.254

82

These are due to generalized compression of the growing fetus by abnormal biomechanical forces, for example uterine constraint.

Deformations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.254

83

This refers to multiple congenital anomalies that result from secondary effects of a single localized aberration in organogenesis. The initiating event may be a malformation, deformation or disruption.

Sequence(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.254

84

This refers to the presence of several defects that cannot be explained on the basis of a single localizing initiating error in morphogenesis.

Malformation syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.253

85

Elements of the TORCH complex.

TOxoplasmaTreponema pallidumRubellaCytomeglovirusHerpesvirus(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.256

86

Most common cause of neonatal mortality.

Congenital anomalies(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.253

87

Second most common cause of neonatal mortality.

Prematurity(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.257

88

Lungs of infants with this disease are normal size but are heavy and relatively airless. They have a mottled purple color, with poorly developed atelectatic alveoli.

Neonatal Respiratory Distress Syndrome / Hyaline Membrane Disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.257

89

Characteristic eosinophilic membranes line the respiratory bronchioles, alveolar ducts and random alveoli, which contain necrotic epithelial cells admixed with extravasated plasma proteins.

Hyaline Membrane Disease / Neonatal RDS(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.257

90

Two well known complications of high concentration ventilator administered oxygen in infants suffering from RDS.

Retrolental fibroplasia / retinopathy of prematurityBronchopulmonary dysplasia(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.258